Canonical Allele Identifier: CA388786359

Gene: F7

Linked Data

• dbSNP Id: rs121964927
• gnomAD v2: 13-113773030-G-A
• gnomAD v4: 13-113118716-G-A
• MyVariant Identifiers: chr13:g.113773030G>A (hg19) ; chr13:g.113118716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118716G>A , CM000675.2:g.113118716G>A	GRCh38
NC_000013.10:g.113773030G>A , CM000675.1:g.113773030G>A	GRCh37
NC_000013.9:g.112821031G>A	NCBI36
NG_009258.1:g.918G>A , LRG_548:g.918G>A
NG_009262.1:g.17926G>A , LRG_554:g.17926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1043G>A MANE Select	ENSP00000329546.4:p.Cys348Tyr
ENST00000346342.7:c.1043G>A	ENSP00000329546.3:p.Cys348Tyr
ENST00000375581.3:c.1109G>A	ENSP00000364731.3:p.Cys370Tyr
ENST00000541084.5:c.857G>A	ENSP00000442051.2:p.Cys286Tyr
NM_000131.4:c.1109G>A , LRG_554t1:c.1109G>A	NP_000122.1:p.Cys370Tyr
NM_001267554.1:c.857G>A	NP_001254483.1:p.Cys286Tyr
NM_019616.3:c.1043G>A , LRG_554t2:c.1043G>A	NP_062562.1:p.Cys348Tyr
NR_051961.1:n.1130G>A
XM_006719963.2:c.902G>A	XP_006720026.1:p.Cys301Tyr
XM_011537474.1:c.1151G>A	XP_011535776.1:p.Cys384Tyr
XM_011537475.1:c.965G>A	XP_011535777.1:p.Cys322Tyr
XM_011537476.1:c.803G>A	XP_011535778.1:p.Cys268Tyr
XM_011537477.1:c.1112G>A	XP_011535779.1:p.Cys371Tyr
XM_006719963.3:c.947G>A	XP_006720026.2:p.Cys316Tyr
XM_011537474.2:c.1196G>A	XP_011535776.2:p.Cys399Tyr
XM_011537475.2:c.1010G>A	XP_011535777.2:p.Cys337Tyr
XM_011537476.2:c.803G>A	XP_011535778.1:p.Cys268Tyr
NM_019616.4:c.1043G>A MANE Select	NP_062562.1:p.Cys348Tyr
NR_051961.2:n.1127G>A
NM_001267554.2:c.857G>A	NP_001254483.1:p.Cys286Tyr