Canonical Allele Identifier: CA384985773
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs374741881
gnomAD v3: 12-52807688-G-C
gnomAD v4: 12-52807688-G-C
MyVariant Identifiers: chr12:g.53201472G>C (hg19) chr12:g.52807688G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52807688G>C , CM000674.2:g.52807688G>C GRCh38
NC_000012.11:g.53201472G>C , CM000674.1:g.53201472G>C GRCh37
NC_000012.10:g.51487739G>C NCBI36
NG_007380.1:g.11864C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.1302C>G MANE Select ENSP00000448220.1:p.Ile434Met
ENST00000548097.5:c.*814C>G ENSP00000449755.1:n.*814C>G
ENST00000551956.1:c.1302C>G ENSP00000448220.1:p.Ile434Met
NM_002272.3:c.1302C>G NP_002263.3:p.Ile434Met
NM_002272.4:c.1302C>G MANE Select NP_002263.3:p.Ile434Met
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