Canonical Allele Identifier: CA397484853

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs1479443055
• gnomAD v2: 16-89805949-C-T
• gnomAD v3: 16-89739541-C-T
• gnomAD v4: 16-89739541-C-T
• MyVariant Identifiers: chr16:g.89805949C>T (hg19) ; chr16:g.89739541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739541C>T , CM000678.2:g.89739541C>T	GRCh38
NC_000016.9:g.89805949C>T , CM000678.1:g.89805949C>T	GRCh37
NC_000016.8:g.88333450C>T	NCBI36
NG_011706.1:g.82117G>A , LRG_495:g.82117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2520G>A (FANCA)	ENSP00000512522.1:n.*2520G>A
ENST00000564475.6:c.3947G>A (FANCA)	ENSP00000454977.2:p.Gly1316Glu
ENST00000567510.2:c.2517G>A (FANCA)	ENSP00000455969.1:n.2517G>A
ENST00000568369.6:c.3947G>A (FANCA)	ENSP00000456829.1:p.Gly1316Glu
ENST00000696274.1:n.3908G>A (FANCA)
ENST00000696275.1:c.*3182G>A (FANCA)	ENSP00000512517.1:n.*3182G>A
ENST00000696286.1:c.3935-252G>A (FANCA)	ENSP00000512523.1:n.3935-252G>A
ENST00000696287.1:c.3818G>A (FANCA)	ENSP00000512524.1:p.Gly1273Glu
ENST00000696291.1:c.*3379G>A (FANCA)	ENSP00000512530.1:n.*3379G>A
ENST00000389301.8:c.3947G>A (FANCA) MANE Select	ENSP00000373952.3:p.Gly1316Glu
ENST00000443381.7:c.*1295C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*1295C>T
ENST00000289816.9:c.*1295C>T (ZNF276)	ENSP00000289816.5:n.*1295C>T
ENST00000389301.7:c.3947G>A (FANCA)	ENSP00000373952.3:p.Gly1316Glu
ENST00000561722.5:c.98G>A (FANCA)	ENSP00000456608.1:p.Gly33Glu
ENST00000562424.1:n.218G>A (FANCA)
ENST00000563983.5:n.3128C>T (ZNF276)
ENST00000564475.5:c.277G>A (FANCA)
ENST00000564870.1:c.148G>A (FANCA)
ENST00000564969.5:n.672G>A (FANCA)
ENST00000567879.5:c.413-275G>A (FANCA)	ENSP00000457006.1:n.413-275G>A
ENST00000568369.5:c.3947G>A (FANCA)	ENSP00000456829.1:p.Gly1316Glu
ENST00000568626.1:c.656G>A (FANCA)
NM_000135.2:c.3947G>A , LRG_495t1:c.3947G>A (FANCA)	NP_000126.2:p.Gly1316Glu
NM_001113525.1:c.*1295C>T (ZNF276)	NP_001106997.1:n.*1295C>T
NM_001286167.1:c.3947G>A (FANCA)	NP_001273096.1:p.Gly1316Glu
NM_152287.3:c.*1295C>T (ZNF276)	NP_689500.2:n.*1295C>T
NR_110122.1:n.3312C>T (ZNF276)
NR_110126.1:n.3195C>T (ZNF276)
NR_110128.1:n.3118C>T (ZNF276)
NR_110129.1:n.3207C>T (ZNF276)
XM_005256294.3:c.3947G>A (FANCA)	XP_005256351.1:p.Gly1316Glu
XM_011522945.1:c.3818G>A (FANCA)	XP_011521247.1:p.Gly1273Glu
XM_011522946.1:c.2924G>A (FANCA)	XP_011521248.1:p.Gly975Glu
XM_011522947.1:c.2924G>A (FANCA)	XP_011521249.1:p.Gly975Glu
XR_933244.1:n.3978-252G>A (FANCA)
XR_933245.1:n.3851G>A (FANCA)
NM_000135.3:c.3947G>A (FANCA)	NP_000126.2:p.Gly1316Glu
NM_001286167.2:c.3947G>A (FANCA)	NP_001273096.1:p.Gly1316Glu
XM_005256294.4:c.3947G>A (FANCA)	XP_005256351.1:p.Gly1316Glu
XM_011522945.2:c.3818G>A (FANCA)	XP_011521247.1:p.Gly1273Glu
XM_011522946.3:c.2924G>A (FANCA)	XP_011521248.1:p.Gly975Glu
XM_011522947.2:c.2924G>A (FANCA)	XP_011521249.1:p.Gly975Glu
XM_017023044.2:c.3818G>A (FANCA)	XP_016878533.1:p.Gly1273Glu
XM_017023890.1:c.*1295C>T (ZNF276)	XP_016879379.1:n.*1295C>T
XM_024450189.1:c.2924G>A (FANCA)	XP_024305957.1:p.Gly975Glu
XR_001751866.1:n.3817G>A (FANCA)
XR_933244.2:n.3978-252G>A (FANCA)
XR_933245.2:n.3851G>A (FANCA)
XR_933484.2:n.3306C>T (ZNF276)
NM_000135.4:c.3947G>A (FANCA) MANE Select	NP_000126.2:p.Gly1316Glu
NM_001113525.2:c.*1295C>T (ZNF276) MANE Select	NP_001106997.1:n.*1295C>T
NM_001286167.3:c.3947G>A (FANCA)	NP_001273096.1:p.Gly1316Glu
NM_152287.4:c.*1295C>T (ZNF276)	NP_689500.2:n.*1295C>T
NR_110122.2:n.3295C>T (ZNF276)
NR_110126.2:n.3178C>T (ZNF276)
NR_110129.2:n.3212C>T (ZNF276)
NR_110128.2:n.3118C>T (ZNF276)