Canonical Allele Identifier: CA480075632
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1285611738
gnomAD v2: 12-53201475-G-A
gnomAD v4: 12-52807691-G-A
MyVariant Identifiers: chr12:g.53201475G>A (hg19) chr12:g.52807691G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52807691G>A , CM000674.2:g.52807691G>A GRCh38
NC_000012.11:g.53201475G>A , CM000674.1:g.53201475G>A GRCh37
NC_000012.10:g.51487742G>A NCBI36
NG_007380.1:g.11861C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.1299C>T MANE Select ENSP00000448220.1:p.Asp433=
ENST00000548097.5:c.*811C>T ENSP00000449755.1:n.*811C>T
ENST00000551956.1:c.1299C>T ENSP00000448220.1:p.Asp433=
NM_002272.3:c.1299C>T NP_002263.3:p.Asp433=
NM_002272.4:c.1299C>T MANE Select NP_002263.3:p.Asp433=
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