Canonical Allele Identifier: CA612690899

Gene: F7

Linked Data

• dbSNP Id: rs1175518410
• gnomAD v2: 13-113773832-C-G
• gnomAD v3: 13-113119518-C-G
• gnomAD v4: 13-113119518-C-G
• MyVariant Identifiers: chr13:g.113773832C>G (hg19) ; chr13:g.113119518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119518C>G , CM000675.2:g.113119518C>G	GRCh38
NC_000013.10:g.113773832C>G , CM000675.1:g.113773832C>G	GRCh37
NC_000013.9:g.112821833C>G	NCBI36
NG_009258.1:g.1720C>G , LRG_548:g.1720C>G
NG_009262.1:g.18728C>G , LRG_554:g.18728C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.*510C>G MANE Select	ENSP00000329546.4:n.*510C>G
ENST00000346342.7:c.*510C>G	ENSP00000329546.3:n.*510C>G
ENST00000375581.3:c.*510C>G	ENSP00000364731.3:n.*510C>G
ENST00000541084.5:c.*510C>G	ENSP00000442051.2:n.*510C>G
NM_000131.4:c.*510C>G , LRG_554t1:c.*510C>G	NP_000122.1:n.*510C>G
NM_001267554.1:c.*510C>G	NP_001254483.1:n.*510C>G
NM_019616.3:c.*510C>G , LRG_554t2:c.*510C>G	NP_062562.1:n.*510C>G
NR_051961.1:n.1932C>G
XM_006719963.2:c.*510C>G	XP_006720026.1:n.*510C>G
XM_011537474.1:c.*510C>G	XP_011535776.1:n.*510C>G
XM_011537475.1:c.*510C>G	XP_011535777.1:n.*510C>G
XM_011537476.1:c.*510C>G	XP_011535778.1:n.*510C>G
XM_011537477.1:c.*510C>G	XP_011535779.1:n.*510C>G
XM_006719963.3:c.*510C>G	XP_006720026.2:n.*510C>G
XM_011537474.2:c.*510C>G	XP_011535776.2:n.*510C>G
XM_011537475.2:c.*510C>G	XP_011535777.2:n.*510C>G
XM_011537476.2:c.*510C>G	XP_011535778.1:n.*510C>G
NM_019616.4:c.*510C>G MANE Select	NP_062562.1:n.*510C>G
NR_051961.2:n.1929C>G
NM_001267554.2:c.*510C>G	NP_001254483.1:n.*510C>G