Canonical Allele Identifier: CA256458268

Gene: F7

Linked Data

• dbSNP Id: rs765874428
• gnomAD v3: 13-113113902-G-C
• gnomAD v4: 13-113113902-G-C
• MyVariant Identifiers: chr13:g.113768216G>C (hg19) ; chr13:g.113113902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113902G>C , CM000675.2:g.113113902G>C	GRCh38
NC_000013.10:g.113768216G>C , CM000675.1:g.113768216G>C	GRCh37
NC_000013.9:g.112816217G>C	NCBI36
NG_009262.1:g.13112G>C , LRG_554:g.13112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.306G>C MANE Select	ENSP00000329546.4:p.Gln102His
ENST00000346342.7:c.306G>C	ENSP00000329546.3:p.Gln102His
ENST00000375581.3:c.372G>C	ENSP00000364731.3:p.Gln124His
ENST00000444337.1:c.*114G>C	ENSP00000387669.1:n.*114G>C
ENST00000473085.1:n.253G>C
ENST00000479674.1:n.639G>C
ENST00000541084.5:c.120G>C	ENSP00000442051.2:p.Gln40His
NM_000131.4:c.372G>C , LRG_554t1:c.372G>C	NP_000122.1:p.Gln124His
NM_001267554.1:c.120G>C	NP_001254483.1:p.Gln40His
NM_019616.3:c.306G>C , LRG_554t2:c.306G>C	NP_062562.1:p.Gln102His
NR_051961.1:n.393G>C
XM_006719963.2:c.306G>C	XP_006720026.1:p.Gln102His
XM_011537474.1:c.306G>C	XP_011535776.1:p.Gln102His
XM_011537475.1:c.120G>C	XP_011535777.1:p.Gln40His
XM_011537477.1:c.267G>C	XP_011535779.1:p.Gln89His
XM_006719963.3:c.351G>C	XP_006720026.2:p.Gln117His
XM_011537474.2:c.351G>C	XP_011535776.2:p.Gln117His
XM_011537475.2:c.165G>C	XP_011535777.2:p.Gln55His
NM_019616.4:c.306G>C MANE Select	NP_062562.1:p.Gln102His
NR_051961.2:n.390G>C
NM_001267554.2:c.120G>C	NP_001254483.1:p.Gln40His