Canonical Allele Identifier: CA369630365
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142654915T>G (hg19) chr7:g.142957828T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957828T>G , CM000669.2:g.142957828T>G GRCh38
NC_000007.13:g.142654915T>G , CM000669.1:g.142654915T>G GRCh37
NC_000007.12:g.142365037T>G NCBI36
NG_007492.1:g.9589A>C
NG_007492.2:g.9589A>C
NG_007492.3:g.9589A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.671A>C MANE Select ENSP00000347409.2:p.Gln224Pro
ENST00000355265.6:c.671A>C ENSP00000347409.2:p.Gln224Pro
ENST00000476829.5:c.525+476A>C ENSP00000419889.1:n.525+476A>C
ENST00000479768.6:n.789A>C
ENST00000494148.1:n.270A>C
NM_000420.2:c.671A>C NP_000411.1:p.Gln224Pro
XM_005249993.2:c.707A>C XP_005250050.1:p.Gln236Pro
NM_000420.3:c.671A>C MANE Select NP_000411.1:p.Gln224Pro
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