Canonical Allele Identifier: CA485424041

Gene: F7

Linked Data

• gnomAD v4: 13-113118774-T-C
• MyVariant Identifiers: chr13:g.113773088T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118774T>C , CM000675.2:g.113118774T>C	GRCh38
NC_000013.10:g.113773088T>C , CM000675.1:g.113773088T>C	GRCh37
NC_000013.9:g.112821089T>C	NCBI36
NG_009258.1:g.976T>C , LRG_548:g.976T>C
NG_009262.1:g.17984T>C , LRG_554:g.17984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1101T>C MANE Select	ENSP00000329546.4:p.Cys367=
ENST00000346342.7:c.1101T>C	ENSP00000329546.3:p.Cys367=
ENST00000375581.3:c.1167T>C	ENSP00000364731.3:p.Cys389=
ENST00000541084.5:c.915T>C	ENSP00000442051.2:p.Cys305=
NM_000131.4:c.1167T>C , LRG_554t1:c.1167T>C	NP_000122.1:p.Cys389=
NM_001267554.1:c.915T>C	NP_001254483.1:p.Cys305=
NM_019616.3:c.1101T>C , LRG_554t2:c.1101T>C	NP_062562.1:p.Cys367=
NR_051961.1:n.1188T>C
XM_006719963.2:c.960T>C	XP_006720026.1:p.Cys320=
XM_011537474.1:c.1209T>C	XP_011535776.1:p.Cys403=
XM_011537475.1:c.1023T>C	XP_011535777.1:p.Cys341=
XM_011537476.1:c.861T>C	XP_011535778.1:p.Cys287=
XM_011537477.1:c.1170T>C	XP_011535779.1:p.Cys390=
XM_006719963.3:c.1005T>C	XP_006720026.2:p.Cys335=
XM_011537474.2:c.1254T>C	XP_011535776.2:p.Cys418=
XM_011537475.2:c.1068T>C	XP_011535777.2:p.Cys356=
XM_011537476.2:c.861T>C	XP_011535778.1:p.Cys287=
NM_019616.4:c.1101T>C MANE Select	NP_062562.1:p.Cys367=
NR_051961.2:n.1185T>C
NM_001267554.2:c.915T>C	NP_001254483.1:p.Cys305=