Canonical Allele Identifier: CA479873806
Gene: KRT4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53203176G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809392G>C , CM000674.2:g.52809392G>C GRCh38
NC_000012.11:g.53203176G>C , CM000674.1:g.53203176G>C GRCh37
NC_000012.10:g.51489443G>C NCBI36
NG_007380.1:g.10160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.825C>G MANE Select ENSP00000448220.1:p.Leu275=
ENST00000548097.5:c.*337C>G ENSP00000449755.1:n.*337C>G
ENST00000549295.1:n.259C>G
ENST00000551956.1:c.825C>G ENSP00000448220.1:p.Leu275=
ENST00000552668.1:c.*230C>G ENSP00000447320.1:n.*230C>G
NM_002272.3:c.825C>G NP_002263.3:p.Leu275=
NM_002272.4:c.825C>G MANE Select NP_002263.3:p.Leu275=
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