Canonical Allele Identifier: CA369628103
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142651367G>C (hg19) chr7:g.142954280G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954280G>C , CM000669.2:g.142954280G>C GRCh38
NC_000007.13:g.142651367G>C , CM000669.1:g.142651367G>C GRCh37
NC_000007.12:g.142361489G>C NCBI36
NG_007492.1:g.13137C>G
NG_007492.2:g.13137C>G
NG_007492.3:g.13137C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.828C>G MANE Select ENSP00000347409.2:p.Ile276Met
ENST00000355265.6:c.828C>G ENSP00000347409.2:p.Ile276Met
ENST00000479768.6:n.946C>G
NM_000420.2:c.828C>G NP_000411.1:p.Ile276Met
XM_005249993.2:c.864C>G XP_005250050.1:p.Ile288Met
XM_005249994.3:c.-120C>G XP_005250051.1:n.-120C>G
NM_000420.3:c.828C>G MANE Select NP_000411.1:p.Ile276Met
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