Canonical Allele Identifier: CA369630569

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654942G>A (hg19) ; chr7:g.142957855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957855G>A , CM000669.2:g.142957855G>A	GRCh38
NC_000007.13:g.142654942G>A , CM000669.1:g.142654942G>A	GRCh37
NC_000007.12:g.142365064G>A	NCBI36
NG_007492.1:g.9562C>T
NG_007492.2:g.9562C>T
NG_007492.3:g.9562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.644C>T MANE Select	ENSP00000347409.2:p.Pro215Leu
ENST00000467543.6:c.*496C>T	ENSP00000420011.2:n.*496C>T
ENST00000355265.6:c.644C>T	ENSP00000347409.2:p.Pro215Leu
ENST00000467543.5:c.587C>T	ENSP00000420011.1:p.Pro196Leu
ENST00000476829.5:c.525+449C>T	ENSP00000419889.1:n.525+449C>T
ENST00000479768.6:n.762C>T
ENST00000494148.1:n.243C>T
NM_000420.2:c.644C>T	NP_000411.1:p.Pro215Leu
XM_005249993.2:c.680C>T	XP_005250050.1:p.Pro227Leu
NM_000420.3:c.644C>T MANE Select	NP_000411.1:p.Pro215Leu