Canonical Allele Identifier: CA369631231

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655030T>G (hg19) ; chr7:g.142957943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957943T>G , CM000669.2:g.142957943T>G	GRCh38
NC_000007.13:g.142655030T>G , CM000669.1:g.142655030T>G	GRCh37
NC_000007.12:g.142365152T>G	NCBI36
NG_007492.1:g.9474A>C
NG_007492.2:g.9474A>C
NG_007492.3:g.9474A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.556A>C MANE Select	ENSP00000347409.2:p.Thr186Pro
ENST00000467543.6:c.*408A>C	ENSP00000420011.2:n.*408A>C
ENST00000355265.6:c.556A>C	ENSP00000347409.2:p.Thr186Pro
ENST00000467543.5:c.499A>C	ENSP00000420011.1:p.Thr167Pro
ENST00000476829.5:c.525+361A>C	ENSP00000419889.1:n.525+361A>C
ENST00000479768.6:n.674A>C
ENST00000494148.1:n.155A>C
NM_000420.2:c.556A>C	NP_000411.1:p.Thr186Pro
XM_005249993.2:c.592A>C	XP_005250050.1:p.Thr198Pro
NM_000420.3:c.556A>C MANE Select	NP_000411.1:p.Thr186Pro