Canonical Allele Identifier: CA388782369

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768232T>C (hg19) ; chr13:g.113113918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113918T>C , CM000675.2:g.113113918T>C	GRCh38
NC_000013.10:g.113768232T>C , CM000675.1:g.113768232T>C	GRCh37
NC_000013.9:g.112816233T>C	NCBI36
NG_009262.1:g.13128T>C , LRG_554:g.13128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.322T>C MANE Select	ENSP00000329546.4:p.Cys108Arg
ENST00000346342.7:c.322T>C	ENSP00000329546.3:p.Cys108Arg
ENST00000375581.3:c.388T>C	ENSP00000364731.3:p.Cys130Arg
ENST00000444337.1:c.*130T>C	ENSP00000387669.1:n.*130T>C
ENST00000473085.1:n.269T>C
ENST00000479674.1:n.655T>C
ENST00000541084.5:c.136T>C	ENSP00000442051.2:p.Cys46Arg
NM_000131.4:c.388T>C , LRG_554t1:c.388T>C	NP_000122.1:p.Cys130Arg
NM_001267554.1:c.136T>C	NP_001254483.1:p.Cys46Arg
NM_019616.3:c.322T>C , LRG_554t2:c.322T>C	NP_062562.1:p.Cys108Arg
NR_051961.1:n.409T>C
XM_006719963.2:c.322T>C	XP_006720026.1:p.Cys108Arg
XM_011537474.1:c.322T>C	XP_011535776.1:p.Cys108Arg
XM_011537475.1:c.136T>C	XP_011535777.1:p.Cys46Arg
XM_011537477.1:c.283T>C	XP_011535779.1:p.Cys95Arg
XM_006719963.3:c.367T>C	XP_006720026.2:p.Cys123Arg
XM_011537474.2:c.367T>C	XP_011535776.2:p.Cys123Arg
XM_011537475.2:c.181T>C	XP_011535777.2:p.Cys61Arg
NM_019616.4:c.322T>C MANE Select	NP_062562.1:p.Cys108Arg
NR_051961.2:n.406T>C
NM_001267554.2:c.136T>C	NP_001254483.1:p.Cys46Arg