Canonical Allele Identifier: CA458279164

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655028A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957941A>G , CM000669.2:g.142957941A>G	GRCh38
NC_000007.13:g.142655028A>G , CM000669.1:g.142655028A>G	GRCh37
NC_000007.12:g.142365150A>G	NCBI36
NG_007492.1:g.9476T>C
NG_007492.2:g.9476T>C
NG_007492.3:g.9476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.558T>C MANE Select	ENSP00000347409.2:p.Thr186=
ENST00000467543.6:c.*410T>C	ENSP00000420011.2:n.*410T>C
ENST00000355265.6:c.558T>C	ENSP00000347409.2:p.Thr186=
ENST00000467543.5:c.501T>C	ENSP00000420011.1:p.Thr167=
ENST00000476829.5:c.525+363T>C	ENSP00000419889.1:n.525+363T>C
ENST00000479768.6:n.676T>C
ENST00000494148.1:n.157T>C
NM_000420.2:c.558T>C	NP_000411.1:p.Thr186=
XM_005249993.2:c.594T>C	XP_005250050.1:p.Thr198=
NM_000420.3:c.558T>C MANE Select	NP_000411.1:p.Thr186=