Canonical Allele Identifier: CA369630372
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142654916G>C (hg19) chr7:g.142957829G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957829G>C , CM000669.2:g.142957829G>C GRCh38
NC_000007.13:g.142654916G>C , CM000669.1:g.142654916G>C GRCh37
NC_000007.12:g.142365038G>C NCBI36
NG_007492.1:g.9588C>G
NG_007492.2:g.9588C>G
NG_007492.3:g.9588C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.670C>G MANE Select ENSP00000347409.2:p.Gln224Glu
ENST00000355265.6:c.670C>G ENSP00000347409.2:p.Gln224Glu
ENST00000476829.5:c.525+475C>G ENSP00000419889.1:n.525+475C>G
ENST00000479768.6:n.788C>G
ENST00000494148.1:n.269C>G
NM_000420.2:c.670C>G NP_000411.1:p.Gln224Glu
XM_005249993.2:c.706C>G XP_005250050.1:p.Gln236Glu
NM_000420.3:c.670C>G MANE Select NP_000411.1:p.Gln224Glu
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