Canonical Allele Identifier: CA479873966
Gene: KRT4 HGNC NCBI

Linked Data

gnomAD v4: 12-52809445-A-G
MyVariant Identifiers: chr12:g.53203229A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809445A>G , CM000674.2:g.52809445A>G GRCh38
NC_000012.11:g.53203229A>G , CM000674.1:g.53203229A>G GRCh37
NC_000012.10:g.51489496A>G NCBI36
NG_007380.1:g.10107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.772T>C MANE Select ENSP00000448220.1:p.Leu258=
ENST00000548097.5:c.*284T>C ENSP00000449755.1:n.*284T>C
ENST00000549295.1:n.206T>C
ENST00000551956.1:c.772T>C ENSP00000448220.1:p.Leu258=
ENST00000552668.1:c.*177T>C ENSP00000447320.1:n.*177T>C
NM_002272.3:c.772T>C NP_002263.3:p.Leu258=
NM_002272.4:c.772T>C MANE Select NP_002263.3:p.Leu258=
Search 100 bp 5'
Search 100 bp 3'