Canonical Allele Identifier: CA458279083
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142654914C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957827C>T , CM000669.2:g.142957827C>T GRCh38
NC_000007.13:g.142654914C>T , CM000669.1:g.142654914C>T GRCh37
NC_000007.12:g.142365036C>T NCBI36
NG_007492.1:g.9590G>A
NG_007492.2:g.9590G>A
NG_007492.3:g.9590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672G>A MANE Select ENSP00000347409.2:p.Gln224=
ENST00000355265.6:c.672G>A ENSP00000347409.2:p.Gln224=
ENST00000476829.5:c.525+477G>A ENSP00000419889.1:n.525+477G>A
ENST00000479768.6:n.790G>A
ENST00000494148.1:n.271G>A
NM_000420.2:c.672G>A NP_000411.1:p.Gln224=
XM_005249993.2:c.708G>A XP_005250050.1:p.Gln236=
NM_000420.3:c.672G>A MANE Select NP_000411.1:p.Gln224=
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