Canonical Allele Identifier: CA7060149

Gene: F7

Linked Data

• ClinVar Variation Id: 988831
• ClinVar RCV Id: RCV001270525
• dbSNP Id: rs760341993
• ExAC: 13:113772778 C / T
• gnomAD v2: 13-113772778-C-T
• gnomAD v4: 13-113118464-C-T
• MyVariant Identifiers: chr13:g.113772778C>T (hg19) ; chr13:g.113118464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118464C>T , CM000675.2:g.113118464C>T	GRCh38
NC_000013.10:g.113772778C>T , CM000675.1:g.113772778C>T	GRCh37
NC_000013.9:g.112820779C>T	NCBI36
NG_009258.1:g.666C>T , LRG_548:g.666C>T
NG_009262.1:g.17674C>T , LRG_554:g.17674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.791C>T MANE Select	ENSP00000329546.4:p.Ala264Val
ENST00000346342.7:c.791C>T	ENSP00000329546.3:p.Ala264Val
ENST00000375581.3:c.857C>T	ENSP00000364731.3:p.Ala286Val
ENST00000541084.5:c.605C>T	ENSP00000442051.2:p.Ala202Val
NM_000131.4:c.857C>T , LRG_554t1:c.857C>T	NP_000122.1:p.Ala286Val
NM_001267554.1:c.605C>T	NP_001254483.1:p.Ala202Val
NM_019616.3:c.791C>T , LRG_554t2:c.791C>T	NP_062562.1:p.Ala264Val
NR_051961.1:n.878C>T
XM_006719963.2:c.650C>T	XP_006720026.1:p.Ala217Val
XM_011537474.1:c.899C>T	XP_011535776.1:p.Ala300Val
XM_011537475.1:c.713C>T	XP_011535777.1:p.Ala238Val
XM_011537476.1:c.551C>T	XP_011535778.1:p.Ala184Val
XM_011537477.1:c.860C>T	XP_011535779.1:p.Ala287Val
XM_006719963.3:c.695C>T	XP_006720026.2:p.Ala232Val
XM_011537474.2:c.944C>T	XP_011535776.2:p.Ala315Val
XM_011537475.2:c.758C>T	XP_011535777.2:p.Ala253Val
XM_011537476.2:c.551C>T	XP_011535778.1:p.Ala184Val
NM_019616.4:c.791C>T MANE Select	NP_062562.1:p.Ala264Val
NR_051961.2:n.875C>T
NM_001267554.2:c.605C>T	NP_001254483.1:p.Ala202Val