Canonical Allele Identifier: CA369630608

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654948G>T (hg19) ; chr7:g.142957861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957861G>T , CM000669.2:g.142957861G>T	GRCh38
NC_000007.13:g.142654948G>T , CM000669.1:g.142654948G>T	GRCh37
NC_000007.12:g.142365070G>T	NCBI36
NG_007492.1:g.9556C>A
NG_007492.2:g.9556C>A
NG_007492.3:g.9556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.638C>A MANE Select	ENSP00000347409.2:p.Pro213His
ENST00000467543.6:c.*490C>A	ENSP00000420011.2:n.*490C>A
ENST00000355265.6:c.638C>A	ENSP00000347409.2:p.Pro213His
ENST00000467543.5:c.581C>A	ENSP00000420011.1:p.Pro194His
ENST00000476829.5:c.525+443C>A	ENSP00000419889.1:n.525+443C>A
ENST00000479768.6:n.756C>A
ENST00000494148.1:n.237C>A
NM_000420.2:c.638C>A	NP_000411.1:p.Pro213His
XM_005249993.2:c.674C>A	XP_005250050.1:p.Pro225His
NM_000420.3:c.638C>A MANE Select	NP_000411.1:p.Pro213His