Canonical Allele Identifier: CA6588596
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs771924758
ExAC: 12:53203143 T / A
gnomAD v2: 12-53203143-T-A
gnomAD v4: 12-52809359-T-A
MyVariant Identifiers: chr12:g.53203143T>A (hg19) chr12:g.52809359T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809359T>A , CM000674.2:g.52809359T>A GRCh38
NC_000012.11:g.53203143T>A , CM000674.1:g.53203143T>A GRCh37
NC_000012.10:g.51489410T>A NCBI36
NG_007380.1:g.10193A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.834+24A>T MANE Select ENSP00000448220.1:n.834+24A>T
ENST00000548097.5:c.*346+24A>T ENSP00000449755.1:n.*346+24A>T
ENST00000549295.1:n.292A>T
ENST00000551956.1:c.834+24A>T ENSP00000448220.1:n.834+24A>T
NM_002272.3:c.834+24A>T NP_002263.3:n.834+24A>T
NM_002272.4:c.834+24A>T MANE Select NP_002263.3:n.834+24A>T
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