Canonical Allele Identifier: CA960398222

Gene: F7

Linked Data

• dbSNP Id: rs1245422810
• gnomAD v3: 13-113119525-T-A
• gnomAD v4: 13-113119525-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119525T>A , CM000675.2:g.113119525T>A	GRCh38
NC_000013.10:g.113773839T>A , CM000675.1:g.113773839T>A	GRCh37
NC_000013.9:g.112821840T>A	NCBI36
NG_009258.1:g.1727T>A , LRG_548:g.1727T>A
NG_009262.1:g.18735T>A , LRG_554:g.18735T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*517T>A MANE Select	ENSP00000329546.4:n.*517T>A
ENST00000346342.7:c.*517T>A	ENSP00000329546.3:n.*517T>A
ENST00000375581.3:c.*517T>A	ENSP00000364731.3:n.*517T>A
ENST00000541084.5:c.*517T>A	ENSP00000442051.2:n.*517T>A
NM_000131.4:c.*517T>A , LRG_554t1:c.*517T>A	NP_000122.1:n.*517T>A
NM_001267554.1:c.*517T>A	NP_001254483.1:n.*517T>A
NM_019616.3:c.*517T>A , LRG_554t2:c.*517T>A	NP_062562.1:n.*517T>A
NR_051961.1:n.1939T>A
XM_006719963.2:c.*517T>A	XP_006720026.1:n.*517T>A
XM_011537474.1:c.*517T>A	XP_011535776.1:n.*517T>A
XM_011537475.1:c.*517T>A	XP_011535777.1:n.*517T>A
XM_011537476.1:c.*517T>A	XP_011535778.1:n.*517T>A
XM_011537477.1:c.*517T>A	XP_011535779.1:n.*517T>A
XM_006719963.3:c.*517T>A	XP_006720026.2:n.*517T>A
XM_011537474.2:c.*517T>A	XP_011535776.2:n.*517T>A
XM_011537475.2:c.*517T>A	XP_011535777.2:n.*517T>A
XM_011537476.2:c.*517T>A	XP_011535778.1:n.*517T>A
NM_019616.4:c.*517T>A MANE Select	NP_062562.1:n.*517T>A
NR_051961.2:n.1936T>A
NM_001267554.2:c.*517T>A	NP_001254483.1:n.*517T>A