Canonical Allele Identifier: CA442639211

Gene: F11

Linked Data

• ClinVar Variation Id: 1096747
• ClinVar RCV Id: RCV001418098
• dbSNP Id: rs201882589
• gnomAD v4: 4-186285657-T-C
• MyVariant Identifiers: chr4:g.187206811T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285657T>C , CM000666.2:g.186285657T>C	GRCh38
NC_000004.11:g.187206811T>C , CM000666.1:g.187206811T>C	GRCh37
NC_000004.10:g.187443805T>C	NCBI36
NG_008051.1:g.24694T>C , LRG_583:g.24694T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1324T>C MANE Select	ENSP00000384957.2:p.Leu442=
ENST00000264691.4:c.20T>C
ENST00000264692.8:c.1162T>C	ENSP00000264692.5:p.Leu388=
ENST00000403665.6:c.1324T>C	ENSP00000384957.2:p.Leu442=
NM_000128.3:c.1324T>C , LRG_583t1:c.1324T>C	NP_000119.1:p.Leu442=
XM_005262821.2:c.1327T>C	XP_005262878.1:p.Leu443=
XM_005262822.2:c.1327T>C	XP_005262879.1:p.Leu443=
XM_005262823.2:c.1057T>C	XP_005262880.1:p.Leu353=
XM_005262824.1:c.1327T>C	XP_005262881.1:p.Leu443=
XM_006714137.1:c.1279T>C	XP_006714200.1:p.Leu427=
XR_938706.1:n.1732T>C
XR_938707.1:n.1732T>C
XM_005262821.4:c.1327T>C	XP_005262878.1:p.Leu443=
XM_005262822.4:c.1327T>C	XP_005262879.1:p.Leu443=
XM_005262823.4:c.1057T>C	XP_005262880.1:p.Leu353=
XM_006714137.3:c.1279T>C	XP_006714200.1:p.Leu427=
XR_001741172.2:n.1798T>C
NM_000128.4:c.1324T>C MANE Select	NP_000119.1:p.Leu442=