Canonical Allele Identifier: CA6588448
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs775355098
ExAC: 12:53201474 T / A
gnomAD v2: 12-53201474-T-A
gnomAD v4: 12-52807690-T-A
MyVariant Identifiers: chr12:g.53201474T>A (hg19) chr12:g.52807690T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52807690T>A , CM000674.2:g.52807690T>A GRCh38
NC_000012.11:g.53201474T>A , CM000674.1:g.53201474T>A GRCh37
NC_000012.10:g.51487741T>A NCBI36
NG_007380.1:g.11862A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.1300A>T MANE Select ENSP00000448220.1:p.Ile434Phe
ENST00000548097.5:c.*812A>T ENSP00000449755.1:n.*812A>T
ENST00000551956.1:c.1300A>T ENSP00000448220.1:p.Ile434Phe
NM_002272.3:c.1300A>T NP_002263.3:p.Ile434Phe
NM_002272.4:c.1300A>T MANE Select NP_002263.3:p.Ile434Phe
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