Canonical Allele Identifier: CA7060138

Gene: F7

Linked Data

• dbSNP Id: rs772383858
• ExAC: 13:113772753 G / A
• gnomAD v2: 13-113772753-G-A
• gnomAD v3: 13-113118439-G-A
• gnomAD v4: 13-113118439-G-A
• COSMIC: COSM4878971
• MyVariant Identifiers: chr13:g.113772753G>A (hg19) ; chr13:g.113118439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118439G>A , CM000675.2:g.113118439G>A	GRCh38
NC_000013.10:g.113772753G>A , CM000675.1:g.113772753G>A	GRCh37
NC_000013.9:g.112820754G>A	NCBI36
NG_009258.1:g.641G>A , LRG_548:g.641G>A
NG_009262.1:g.17649G>A , LRG_554:g.17649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.766G>A MANE Select	ENSP00000329546.4:p.Gly256Arg
ENST00000346342.7:c.766G>A	ENSP00000329546.3:p.Gly256Arg
ENST00000375581.3:c.832G>A	ENSP00000364731.3:p.Gly278Arg
ENST00000541084.5:c.580G>A	ENSP00000442051.2:p.Gly194Arg
NM_000131.4:c.832G>A , LRG_554t1:c.832G>A	NP_000122.1:p.Gly278Arg
NM_001267554.1:c.580G>A	NP_001254483.1:p.Gly194Arg
NM_019616.3:c.766G>A , LRG_554t2:c.766G>A	NP_062562.1:p.Gly256Arg
NR_051961.1:n.853G>A
XM_006719963.2:c.625G>A	XP_006720026.1:p.Gly209Arg
XM_011537474.1:c.874G>A	XP_011535776.1:p.Gly292Arg
XM_011537475.1:c.688G>A	XP_011535777.1:p.Gly230Arg
XM_011537476.1:c.526G>A	XP_011535778.1:p.Gly176Arg
XM_011537477.1:c.835G>A	XP_011535779.1:p.Gly279Arg
XM_006719963.3:c.670G>A	XP_006720026.2:p.Gly224Arg
XM_011537474.2:c.919G>A	XP_011535776.2:p.Gly307Arg
XM_011537475.2:c.733G>A	XP_011535777.2:p.Gly245Arg
XM_011537476.2:c.526G>A	XP_011535778.1:p.Gly176Arg
NM_019616.4:c.766G>A MANE Select	NP_062562.1:p.Gly256Arg
NR_051961.2:n.850G>A
NM_001267554.2:c.580G>A	NP_001254483.1:p.Gly194Arg