Canonical Allele Identifier: CA485423975

Gene: F7

Linked Data

• dbSNP Id: rs1383271801
• gnomAD v2: 13-113772983-C-A
• gnomAD v4: 13-113118669-C-A
• MyVariant Identifiers: chr13:g.113772983C>A (hg19) ; chr13:g.113118669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118669C>A , CM000675.2:g.113118669C>A	GRCh38
NC_000013.10:g.113772983C>A , CM000675.1:g.113772983C>A	GRCh37
NC_000013.9:g.112820984C>A	NCBI36
NG_009258.1:g.871C>A , LRG_548:g.871C>A
NG_009262.1:g.17879C>A , LRG_554:g.17879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.996C>A MANE Select	ENSP00000329546.4:p.Ala332=
ENST00000346342.7:c.996C>A	ENSP00000329546.3:p.Ala332=
ENST00000375581.3:c.1062C>A	ENSP00000364731.3:p.Ala354=
ENST00000541084.5:c.810C>A	ENSP00000442051.2:p.Ala270=
NM_000131.4:c.1062C>A , LRG_554t1:c.1062C>A	NP_000122.1:p.Ala354=
NM_001267554.1:c.810C>A	NP_001254483.1:p.Ala270=
NM_019616.3:c.996C>A , LRG_554t2:c.996C>A	NP_062562.1:p.Ala332=
NR_051961.1:n.1083C>A
XM_006719963.2:c.855C>A	XP_006720026.1:p.Ala285=
XM_011537474.1:c.1104C>A	XP_011535776.1:p.Ala368=
XM_011537475.1:c.918C>A	XP_011535777.1:p.Ala306=
XM_011537476.1:c.756C>A	XP_011535778.1:p.Ala252=
XM_011537477.1:c.1065C>A	XP_011535779.1:p.Ala355=
XM_006719963.3:c.900C>A	XP_006720026.2:p.Ala300=
XM_011537474.2:c.1149C>A	XP_011535776.2:p.Ala383=
XM_011537475.2:c.963C>A	XP_011535777.2:p.Ala321=
XM_011537476.2:c.756C>A	XP_011535778.1:p.Ala252=
NM_019616.4:c.996C>A MANE Select	NP_062562.1:p.Ala332=
NR_051961.2:n.1080C>A
NM_001267554.2:c.810C>A	NP_001254483.1:p.Ala270=