Canonical Allele Identifier: CA369631004

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654996A>T (hg19) ; chr7:g.142957909A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957909A>T , CM000669.2:g.142957909A>T	GRCh38
NC_000007.13:g.142654996A>T , CM000669.1:g.142654996A>T	GRCh37
NC_000007.12:g.142365118A>T	NCBI36
NG_007492.1:g.9508T>A
NG_007492.2:g.9508T>A
NG_007492.3:g.9508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.590T>A MANE Select	ENSP00000347409.2:p.Leu197Gln
ENST00000467543.6:c.*442T>A	ENSP00000420011.2:n.*442T>A
ENST00000355265.6:c.590T>A	ENSP00000347409.2:p.Leu197Gln
ENST00000467543.5:c.533T>A	ENSP00000420011.1:p.Leu178Gln
ENST00000476829.5:c.525+395T>A	ENSP00000419889.1:n.525+395T>A
ENST00000479768.6:n.708T>A
ENST00000494148.1:n.189T>A
NM_000420.2:c.590T>A	NP_000411.1:p.Leu197Gln
XM_005249993.2:c.626T>A	XP_005250050.1:p.Leu209Gln
NM_000420.3:c.590T>A MANE Select	NP_000411.1:p.Leu197Gln