Canonical Allele Identifier: CA369631486

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655060G>T (hg19) ; chr7:g.142957973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957973G>T , CM000669.2:g.142957973G>T	GRCh38
NC_000007.13:g.142655060G>T , CM000669.1:g.142655060G>T	GRCh37
NC_000007.12:g.142365182G>T	NCBI36
NG_007492.1:g.9444C>A
NG_007492.2:g.9444C>A
NG_007492.3:g.9444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526C>A MANE Select	ENSP00000347409.2:p.Leu176Ile
ENST00000467543.6:c.*378C>A	ENSP00000420011.2:n.*378C>A
ENST00000355265.6:c.526C>A	ENSP00000347409.2:p.Leu176Ile
ENST00000467543.5:c.469C>A	ENSP00000420011.1:p.Leu157Ile
ENST00000476829.5:c.525+331C>A	ENSP00000419889.1:n.525+331C>A
ENST00000479768.6:n.644C>A
ENST00000494148.1:n.125C>A
NM_000420.2:c.526C>A	NP_000411.1:p.Leu176Ile
XM_005249993.2:c.562C>A	XP_005250050.1:p.Leu188Ile
NM_000420.3:c.526C>A MANE Select	NP_000411.1:p.Leu176Ile