Canonical Allele Identifier: CA384991428
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1939965235
gnomAD v3: 12-52814042-T-G
gnomAD v4: 12-52814042-T-G
MyVariant Identifiers: chr12:g.53207826T>G (hg19) chr12:g.52814042T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814042T>G , CM000674.2:g.52814042T>G GRCh38
NC_000012.11:g.53207826T>G , CM000674.1:g.53207826T>G GRCh37
NC_000012.10:g.51494093T>G NCBI36
NG_007380.1:g.5510A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.17A>C MANE Select ENSP00000448220.1:p.Gln6Pro
ENST00000548097.5:c.17A>C ENSP00000449755.1:p.Gln6Pro
ENST00000551956.1:c.17A>C ENSP00000448220.1:p.Gln6Pro
ENST00000552668.1:c.17A>C ENSP00000447320.1:p.Gln6Pro
NM_002272.3:c.17A>C NP_002263.3:p.Gln6Pro
NM_002272.4:c.17A>C MANE Select NP_002263.3:p.Gln6Pro
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