Canonical Allele Identifier: CA388785920

Gene: F7

Linked Data

• dbSNP Id: rs959914744
• gnomAD v2: 13-113772804-G-T
• gnomAD v3: 13-113118490-G-T
• gnomAD v4: 13-113118490-G-T
• MyVariant Identifiers: chr13:g.113772804G>T (hg19) ; chr13:g.113118490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118490G>T , CM000675.2:g.113118490G>T	GRCh38
NC_000013.10:g.113772804G>T , CM000675.1:g.113772804G>T	GRCh37
NC_000013.9:g.112820805G>T	NCBI36
NG_009258.1:g.692G>T , LRG_548:g.692G>T
NG_009262.1:g.17700G>T , LRG_554:g.17700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.817G>T MANE Select	ENSP00000329546.4:p.Val273Phe
ENST00000346342.7:c.817G>T	ENSP00000329546.3:p.Val273Phe
ENST00000375581.3:c.883G>T	ENSP00000364731.3:p.Val295Phe
ENST00000541084.5:c.631G>T	ENSP00000442051.2:p.Val211Phe
NM_000131.4:c.883G>T , LRG_554t1:c.883G>T	NP_000122.1:p.Val295Phe
NM_001267554.1:c.631G>T	NP_001254483.1:p.Val211Phe
NM_019616.3:c.817G>T , LRG_554t2:c.817G>T	NP_062562.1:p.Val273Phe
NR_051961.1:n.904G>T
XM_006719963.2:c.676G>T	XP_006720026.1:p.Val226Phe
XM_011537474.1:c.925G>T	XP_011535776.1:p.Val309Phe
XM_011537475.1:c.739G>T	XP_011535777.1:p.Val247Phe
XM_011537476.1:c.577G>T	XP_011535778.1:p.Val193Phe
XM_011537477.1:c.886G>T	XP_011535779.1:p.Val296Phe
XM_006719963.3:c.721G>T	XP_006720026.2:p.Val241Phe
XM_011537474.2:c.970G>T	XP_011535776.2:p.Val324Phe
XM_011537475.2:c.784G>T	XP_011535777.2:p.Val262Phe
XM_011537476.2:c.577G>T	XP_011535778.1:p.Val193Phe
NM_019616.4:c.817G>T MANE Select	NP_062562.1:p.Val273Phe
NR_051961.2:n.901G>T
NM_001267554.2:c.631G>T	NP_001254483.1:p.Val211Phe