Canonical Allele Identifier: CA384991407
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs777130445
gnomAD v2: 12-53207815-C-A
gnomAD v4: 12-52814031-C-A
MyVariant Identifiers: chr12:g.53207815C>A (hg19) chr12:g.52814031C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814031C>A , CM000674.2:g.52814031C>A GRCh38
NC_000012.11:g.53207815C>A , CM000674.1:g.53207815C>A GRCh37
NC_000012.10:g.51494082C>A NCBI36
NG_007380.1:g.5521G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.28G>T MANE Select ENSP00000448220.1:p.Gly10Cys
ENST00000548097.5:c.28G>T ENSP00000449755.1:p.Gly10Cys
ENST00000551956.1:c.28G>T ENSP00000448220.1:p.Gly10Cys
ENST00000552668.1:c.28G>T ENSP00000447320.1:p.Gly10Cys
NM_002272.3:c.28G>T NP_002263.3:p.Gly10Cys
NM_002272.4:c.28G>T MANE Select NP_002263.3:p.Gly10Cys
Search 100 bp 5'
Search 100 bp 3'