Canonical Allele Identifier: CA127344
Gene: KEL HGNC NCBI
COSMIC:
COSM4987167 (not active)
MyVariant.info:
GRCh38 chr7:g.142957921G>A
GRCh37 chr7:g.142655008G>A
Revel Score:
ENST00000355265 (MANE Select) 0.218
ENST00000467543 0.218
gnomAD v2:
7:142655008 G / A
gnomAD v3:
7:142957921 G / A
gnomAD v4:
chr7-142957921-G-A
Joint Max Group AF 0.04427067 (MID)
Genomes Max Group AF 0.04015921 (NFE)
Exomes Max Group AF 0.04487668 (MID)
ClinVar RCV:
RCV000019295
ClinVar Variation:
17722
dbSNP:
8176058
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957921G>A , CM000669.2:g.142957921G>A GRCh38
NC_000007.13:g.142655008G>A , CM000669.1:g.142655008G>A GRCh37
NC_000007.12:g.142365130G>A NCBI36
NG_007492.1:g.9496C>T
NG_007492.2:g.9496C>T
NG_007492.3:g.9496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.578C>T MANE Select ENSP00000347409.2:p.Thr193Met
ENST00000467543.6:c.*430C>T ENSP00000420011.2:n.*430C>T
ENST00000355265.6:c.578C>T ENSP00000347409.2:p.Thr193Met
ENST00000467543.5:c.521C>T ENSP00000420011.1:p.Thr174Met
ENST00000476829.5:c.525+383C>T ENSP00000419889.1:n.525+383C>T
ENST00000479768.6:n.696C>T
ENST00000494148.1:n.177C>T
NM_000420.2:c.578C>T NP_000411.1:p.Thr193Met
XM_005249993.2:c.614C>T XP_005250050.1:p.Thr205Met
NM_000420.3:c.578C>T MANE Select NP_000411.1:p.Thr193Met
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