Canonical Allele Identifier: CA8080663

Gene: KATNB1

Linked Data

• ClinVar Variation Id: 435541
• ClinVar RCV Id: RCV000503402 ; RCV000906817 ; RCV003925466
• dbSNP Id: rs145567409
• ExAC: 16:57778351 A / G
• gnomAD v2: 16-57778351-A-G
• gnomAD v3: 16-57744439-A-G
• gnomAD v4: 16-57744439-A-G
• MyVariant Identifiers: chr16:g.57778351A>G (hg19) ; chr16:g.57744439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57744439A>G , CM000678.2:g.57744439A>G	GRCh38
NC_000016.9:g.57778351A>G , CM000678.1:g.57778351A>G	GRCh37
NC_000016.8:g.56335852A>G	NCBI36
NG_046947.1:g.13720A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379661.8:c.217A>G MANE Select	ENSP00000368982.3:p.Thr73Ala
ENST00000379661.7:c.217A>G	ENSP00000368982.3:p.Thr73Ala
ENST00000562592.5:c.217A>G	ENSP00000455350.1:p.Thr73Ala
ENST00000563127.1:n.269A>G
ENST00000566611.5:n.736A>G
ENST00000566726.5:c.229A>G	ENSP00000455270.1:p.Thr77Ala
ENST00000566785.5:c.217A>G	ENSP00000457347.1:p.Thr73Ala
ENST00000569627.1:c.217A>G	ENSP00000457046.1:p.Thr73Ala
NM_005886.2:c.217A>G	NP_005877.2:p.Thr73Ala
XM_005255772.3:c.217A>G	XP_005255829.1:p.Thr73Ala
XM_006721121.2:c.217A>G	XP_006721184.1:p.Thr73Ala
XM_006721122.2:c.217A>G	XP_006721185.1:p.Thr73Ala
XM_006721123.2:c.217A>G	XP_006721186.1:p.Thr73Ala
XM_011522810.1:c.217A>G	XP_011521112.1:p.Thr73Ala
XM_005255772.5:c.217A>G	XP_005255829.1:p.Thr73Ala
XM_006721121.4:c.217A>G	XP_006721184.1:p.Thr73Ala
XM_006721123.4:c.217A>G	XP_006721186.1:p.Thr73Ala
XM_011522810.2:c.217A>G	XP_011521112.1:p.Thr73Ala
XM_017022860.2:c.217A>G	XP_016878349.1:p.Thr73Ala
XM_017022861.1:c.217A>G	XP_016878350.1:p.Thr73Ala
XM_017022862.1:c.217A>G	XP_016878351.1:p.Thr73Ala
XM_017022863.1:c.217A>G	XP_016878352.1:p.Thr73Ala
XM_017022864.1:c.217A>G	XP_016878353.1:p.Thr73Ala
NM_005886.3:c.217A>G MANE Select	NP_005877.2:p.Thr73Ala