Canonical Allele Identifier: CA369630557

Gene: KEL

Linked Data

• dbSNP Id: rs1293125915
• gnomAD v2: 7-142654940-C-T
• gnomAD v4: 7-142957853-C-T
• MyVariant Identifiers: chr7:g.142654940C>T (hg19) ; chr7:g.142957853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957853C>T , CM000669.2:g.142957853C>T	GRCh38
NC_000007.13:g.142654940C>T , CM000669.1:g.142654940C>T	GRCh37
NC_000007.12:g.142365062C>T	NCBI36
NG_007492.1:g.9564G>A
NG_007492.2:g.9564G>A
NG_007492.3:g.9564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.646G>A MANE Select	ENSP00000347409.2:p.Ala216Thr
ENST00000467543.6:c.*498G>A	ENSP00000420011.2:n.*498G>A
ENST00000355265.6:c.646G>A	ENSP00000347409.2:p.Ala216Thr
ENST00000467543.5:c.589G>A	ENSP00000420011.1:p.Ala197Thr
ENST00000476829.5:c.525+451G>A	ENSP00000419889.1:n.525+451G>A
ENST00000479768.6:n.764G>A
ENST00000494148.1:n.245G>A
NM_000420.2:c.646G>A	NP_000411.1:p.Ala216Thr
XM_005249993.2:c.682G>A	XP_005250050.1:p.Ala228Thr
NM_000420.3:c.646G>A MANE Select	NP_000411.1:p.Ala216Thr