Canonical Allele Identifier: CA388786260

Gene: F7

Linked Data

• dbSNP Id: rs759415146
• gnomAD v4: 13-113118665-C-A
• MyVariant Identifiers: chr13:g.113772979C>A (hg19) ; chr13:g.113118665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118665C>A , CM000675.2:g.113118665C>A	GRCh38
NC_000013.10:g.113772979C>A , CM000675.1:g.113772979C>A	GRCh37
NC_000013.9:g.112820980C>A	NCBI36
NG_009258.1:g.867C>A , LRG_548:g.867C>A
NG_009262.1:g.17875C>A , LRG_554:g.17875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.992C>A MANE Select	ENSP00000329546.4:p.Thr331Lys
ENST00000346342.7:c.992C>A	ENSP00000329546.3:p.Thr331Lys
ENST00000375581.3:c.1058C>A	ENSP00000364731.3:p.Thr353Lys
ENST00000541084.5:c.806C>A	ENSP00000442051.2:p.Thr269Lys
NM_000131.4:c.1058C>A , LRG_554t1:c.1058C>A	NP_000122.1:p.Thr353Lys
NM_001267554.1:c.806C>A	NP_001254483.1:p.Thr269Lys
NM_019616.3:c.992C>A , LRG_554t2:c.992C>A	NP_062562.1:p.Thr331Lys
NR_051961.1:n.1079C>A
XM_006719963.2:c.851C>A	XP_006720026.1:p.Thr284Lys
XM_011537474.1:c.1100C>A	XP_011535776.1:p.Thr367Lys
XM_011537475.1:c.914C>A	XP_011535777.1:p.Thr305Lys
XM_011537476.1:c.752C>A	XP_011535778.1:p.Thr251Lys
XM_011537477.1:c.1061C>A	XP_011535779.1:p.Thr354Lys
XM_006719963.3:c.896C>A	XP_006720026.2:p.Thr299Lys
XM_011537474.2:c.1145C>A	XP_011535776.2:p.Thr382Lys
XM_011537475.2:c.959C>A	XP_011535777.2:p.Thr320Lys
XM_011537476.2:c.752C>A	XP_011535778.1:p.Thr251Lys
NM_019616.4:c.992C>A MANE Select	NP_062562.1:p.Thr331Lys
NR_051961.2:n.1076C>A
NM_001267554.2:c.806C>A	NP_001254483.1:p.Thr269Lys