Canonical Allele Identifier: CA10639049

Gene: F7

Linked Data

• ClinVar Variation Id: 311233
• ClinVar RCV Id: RCV000357378
• dbSNP Id: rs577927838
• gnomAD v2: 13-113773607-G-A
• gnomAD v3: 13-113119293-G-A
• gnomAD v4: 13-113119293-G-A
• MyVariant Identifiers: chr13:g.113773607G>A (hg19) ; chr13:g.113119293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119293G>A , CM000675.2:g.113119293G>A	GRCh38
NC_000013.10:g.113773607G>A , CM000675.1:g.113773607G>A	GRCh37
NC_000013.9:g.112821608G>A	NCBI36
NG_009258.1:g.1495G>A , LRG_548:g.1495G>A
NG_009262.1:g.18503G>A , LRG_554:g.18503G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.*285G>A MANE Select	ENSP00000329546.4:n.*285G>A
ENST00000346342.7:c.*285G>A	ENSP00000329546.3:n.*285G>A
ENST00000375581.3:c.*285G>A	ENSP00000364731.3:n.*285G>A
ENST00000541084.5:c.*285G>A	ENSP00000442051.2:n.*285G>A
NM_000131.4:c.*285G>A , LRG_554t1:c.*285G>A	NP_000122.1:n.*285G>A
NM_001267554.1:c.*285G>A	NP_001254483.1:n.*285G>A
NM_019616.3:c.*285G>A , LRG_554t2:c.*285G>A	NP_062562.1:n.*285G>A
NR_051961.1:n.1707G>A
XM_006719963.2:c.*285G>A	XP_006720026.1:n.*285G>A
XM_011537474.1:c.*285G>A	XP_011535776.1:n.*285G>A
XM_011537475.1:c.*285G>A	XP_011535777.1:n.*285G>A
XM_011537476.1:c.*285G>A	XP_011535778.1:n.*285G>A
XM_011537477.1:c.*285G>A	XP_011535779.1:n.*285G>A
XM_006719963.3:c.*285G>A	XP_006720026.2:n.*285G>A
XM_011537474.2:c.*285G>A	XP_011535776.2:n.*285G>A
XM_011537475.2:c.*285G>A	XP_011535777.2:n.*285G>A
XM_011537476.2:c.*285G>A	XP_011535778.1:n.*285G>A
NM_019616.4:c.*285G>A MANE Select	NP_062562.1:n.*285G>A
NR_051961.2:n.1704G>A
NM_001267554.2:c.*285G>A	NP_001254483.1:n.*285G>A