Canonical Allele Identifier: CA384991411
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs886049646
gnomAD v2: 12-53207818-G-A
gnomAD v3: 12-52814034-G-A
gnomAD v4: 12-52814034-G-A
COSMIC: COSM940855
MyVariant Identifiers: chr12:g.53207818G>A (hg19) chr12:g.52814034G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814034G>A , CM000674.2:g.52814034G>A GRCh38
NC_000012.11:g.53207818G>A , CM000674.1:g.53207818G>A GRCh37
NC_000012.10:g.51494085G>A NCBI36
NG_007380.1:g.5518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.25C>T MANE Select ENSP00000448220.1:p.Arg9Ter
ENST00000548097.5:c.25C>T ENSP00000449755.1:p.Arg9Ter
ENST00000551956.1:c.25C>T ENSP00000448220.1:p.Arg9Ter
ENST00000552668.1:c.25C>T ENSP00000447320.1:p.Arg9Ter
NM_002272.3:c.25C>T NP_002263.3:p.Arg9Ter
NM_002272.4:c.25C>T MANE Select NP_002263.3:p.Arg9Ter
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