Canonical Allele Identifier: CA7060234

Gene: F7

Linked Data

• dbSNP Id: rs121964934
• ExAC: 13:113773086 T / C
• gnomAD v2: 13-113773086-T-C
• gnomAD v4: 13-113118772-T-C
• MyVariant Identifiers: chr13:g.113773086T>C (hg19) ; chr13:g.113118772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118772T>C , CM000675.2:g.113118772T>C	GRCh38
NC_000013.10:g.113773086T>C , CM000675.1:g.113773086T>C	GRCh37
NC_000013.9:g.112821087T>C	NCBI36
NG_009258.1:g.974T>C , LRG_548:g.974T>C
NG_009262.1:g.17982T>C , LRG_554:g.17982T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.1099T>C MANE Select	ENSP00000329546.4:p.Cys367Arg
ENST00000346342.7:c.1099T>C	ENSP00000329546.3:p.Cys367Arg
ENST00000375581.3:c.1165T>C	ENSP00000364731.3:p.Cys389Arg
ENST00000541084.5:c.913T>C	ENSP00000442051.2:p.Cys305Arg
NM_000131.4:c.1165T>C , LRG_554t1:c.1165T>C	NP_000122.1:p.Cys389Arg
NM_001267554.1:c.913T>C	NP_001254483.1:p.Cys305Arg
NM_019616.3:c.1099T>C , LRG_554t2:c.1099T>C	NP_062562.1:p.Cys367Arg
NR_051961.1:n.1186T>C
XM_006719963.2:c.958T>C	XP_006720026.1:p.Cys320Arg
XM_011537474.1:c.1207T>C	XP_011535776.1:p.Cys403Arg
XM_011537475.1:c.1021T>C	XP_011535777.1:p.Cys341Arg
XM_011537476.1:c.859T>C	XP_011535778.1:p.Cys287Arg
XM_011537477.1:c.1168T>C	XP_011535779.1:p.Cys390Arg
XM_006719963.3:c.1003T>C	XP_006720026.2:p.Cys335Arg
XM_011537474.2:c.1252T>C	XP_011535776.2:p.Cys418Arg
XM_011537475.2:c.1066T>C	XP_011535777.2:p.Cys356Arg
XM_011537476.2:c.859T>C	XP_011535778.1:p.Cys287Arg
NM_019616.4:c.1099T>C MANE Select	NP_062562.1:p.Cys367Arg
NR_051961.2:n.1183T>C
NM_001267554.2:c.913T>C	NP_001254483.1:p.Cys305Arg