Canonical Allele Identifier: CA369631396

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655049C>G (hg19) ; chr7:g.142957962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957962C>G , CM000669.2:g.142957962C>G	GRCh38
NC_000007.13:g.142655049C>G , CM000669.1:g.142655049C>G	GRCh37
NC_000007.12:g.142365171C>G	NCBI36
NG_007492.1:g.9455G>C
NG_007492.2:g.9455G>C
NG_007492.3:g.9455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.537G>C MANE Select	ENSP00000347409.2:p.Trp179Cys
ENST00000467543.6:c.*389G>C	ENSP00000420011.2:n.*389G>C
ENST00000355265.6:c.537G>C	ENSP00000347409.2:p.Trp179Cys
ENST00000467543.5:c.480G>C	ENSP00000420011.1:p.Trp160Cys
ENST00000476829.5:c.525+342G>C	ENSP00000419889.1:n.525+342G>C
ENST00000479768.6:n.655G>C
ENST00000494148.1:n.136G>C
NM_000420.2:c.537G>C	NP_000411.1:p.Trp179Cys
XM_005249993.2:c.573G>C	XP_005250050.1:p.Trp191Cys
NM_000420.3:c.537G>C MANE Select	NP_000411.1:p.Trp179Cys