Canonical Allele Identifier: CA369631222

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655029G>T (hg19) ; chr7:g.142957942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957942G>T , CM000669.2:g.142957942G>T	GRCh38
NC_000007.13:g.142655029G>T , CM000669.1:g.142655029G>T	GRCh37
NC_000007.12:g.142365151G>T	NCBI36
NG_007492.1:g.9475C>A
NG_007492.2:g.9475C>A
NG_007492.3:g.9475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.557C>A MANE Select	ENSP00000347409.2:p.Thr186Asn
ENST00000467543.6:c.*409C>A	ENSP00000420011.2:n.*409C>A
ENST00000355265.6:c.557C>A	ENSP00000347409.2:p.Thr186Asn
ENST00000467543.5:c.500C>A	ENSP00000420011.1:p.Thr167Asn
ENST00000476829.5:c.525+362C>A	ENSP00000419889.1:n.525+362C>A
ENST00000479768.6:n.675C>A
ENST00000494148.1:n.156C>A
NM_000420.2:c.557C>A	NP_000411.1:p.Thr186Asn
XM_005249993.2:c.593C>A	XP_005250050.1:p.Thr198Asn
NM_000420.3:c.557C>A MANE Select	NP_000411.1:p.Thr186Asn