Canonical Allele Identifier: CA458278974
Gene: KEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.142651358A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954271A>C , CM000669.2:g.142954271A>C GRCh38
NC_000007.13:g.142651358A>C , CM000669.1:g.142651358A>C GRCh37
NC_000007.12:g.142361480A>C NCBI36
NG_007492.1:g.13146T>G
NG_007492.2:g.13146T>G
NG_007492.3:g.13146T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.837T>G MANE Select ENSP00000347409.2:p.Thr279=
ENST00000355265.6:c.837T>G ENSP00000347409.2:p.Thr279=
ENST00000479768.6:n.955T>G
NM_000420.2:c.837T>G NP_000411.1:p.Thr279=
XM_005249993.2:c.873T>G XP_005250050.1:p.Thr291=
XM_005249994.3:c.-111T>G XP_005250051.1:n.-111T>G
NM_000420.3:c.837T>G MANE Select NP_000411.1:p.Thr279=
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