Canonical Allele Identifier: CA369630415

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654921A>T (hg19) ; chr7:g.142957834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957834A>T , CM000669.2:g.142957834A>T	GRCh38
NC_000007.13:g.142654921A>T , CM000669.1:g.142654921A>T	GRCh37
NC_000007.12:g.142365043A>T	NCBI36
NG_007492.1:g.9583T>A
NG_007492.2:g.9583T>A
NG_007492.3:g.9583T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.665T>A MANE Select	ENSP00000347409.2:p.Val222Asp
ENST00000467543.6:c.*517T>A	ENSP00000420011.2:n.*517T>A
ENST00000355265.6:c.665T>A	ENSP00000347409.2:p.Val222Asp
ENST00000467543.5:c.608T>A	ENSP00000420011.1:p.Val203Asp
ENST00000476829.5:c.525+470T>A	ENSP00000419889.1:n.525+470T>A
ENST00000479768.6:n.783T>A
ENST00000494148.1:n.264T>A
NM_000420.2:c.665T>A	NP_000411.1:p.Val222Asp
XM_005249993.2:c.701T>A	XP_005250050.1:p.Val234Asp
NM_000420.3:c.665T>A MANE Select	NP_000411.1:p.Val222Asp