Canonical Allele Identifier: CA2685364723

Gene: KEL

Linked Data

• gnomAD v4: 7-142958040-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958040G>T , CM000669.2:g.142958040G>T	GRCh38
NC_000007.13:g.142655127G>T , CM000669.1:g.142655127G>T	GRCh37
NC_000007.12:g.142365249G>T	NCBI36
NG_007492.1:g.9377C>A
NG_007492.2:g.9377C>A
NG_007492.3:g.9377C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-67C>A MANE Select	ENSP00000347409.2:n.526-67C>A
ENST00000467543.6:c.*378-67C>A	ENSP00000420011.2:n.*378-67C>A
ENST00000355265.6:c.526-67C>A	ENSP00000347409.2:n.526-67C>A
ENST00000467543.5:c.469-67C>A	ENSP00000420011.1:n.469-67C>A
ENST00000476829.5:c.525+264C>A	ENSP00000419889.1:n.525+264C>A
ENST00000479768.6:n.644-67C>A
ENST00000494148.1:n.125-67C>A
NM_000420.2:c.526-67C>A	NP_000411.1:n.526-67C>A
XM_005249993.2:c.562-67C>A	XP_005250050.1:n.562-67C>A
NM_000420.3:c.526-67C>A MANE Select	NP_000411.1:n.526-67C>A