Canonical Allele Identifier: CA834472560

Gene: KEL

Linked Data

• dbSNP Id: rs1162268334
• gnomAD v3: 7-142958182-C-T
• gnomAD v4: 7-142958182-C-T
• MyVariant Identifiers: chr7:g.142655269C>T (hg19) ; chr7:g.142958182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958182C>T , CM000669.2:g.142958182C>T	GRCh38
NC_000007.13:g.142655269C>T , CM000669.1:g.142655269C>T	GRCh37
NC_000007.12:g.142365391C>T	NCBI36
NG_007492.1:g.9235G>A
NG_007492.2:g.9235G>A
NG_007492.3:g.9235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+122G>A MANE Select	ENSP00000347409.2:n.525+122G>A
ENST00000467543.6:c.*377+122G>A	ENSP00000420011.2:n.*377+122G>A
ENST00000355265.6:c.525+122G>A	ENSP00000347409.2:n.525+122G>A
ENST00000467543.5:c.468+122G>A	ENSP00000420011.1:n.468+122G>A
ENST00000476829.5:c.525+122G>A	ENSP00000419889.1:n.525+122G>A
ENST00000479768.6:n.643+122G>A
ENST00000494148.1:n.124+122G>A
NM_000420.2:c.525+122G>A	NP_000411.1:n.525+122G>A
XM_005249993.2:c.561+122G>A	XP_005250050.1:n.561+122G>A
NM_000420.3:c.525+122G>A MANE Select	NP_000411.1:n.525+122G>A