Canonical Allele Identifier: CA480076190
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1303919854
gnomAD v2: 12-53207762-T-C
gnomAD v4: 12-52813978-T-C
MyVariant Identifiers: chr12:g.53207762T>C (hg19) chr12:g.52813978T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52813978T>C , CM000674.2:g.52813978T>C GRCh38
NC_000012.11:g.53207762T>C , CM000674.1:g.53207762T>C GRCh37
NC_000012.10:g.51494029T>C NCBI36
NG_007380.1:g.5574A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.81A>G MANE Select ENSP00000448220.1:p.Arg27=
ENST00000548097.5:c.81A>G ENSP00000449755.1:p.Arg27=
ENST00000551956.1:c.81A>G ENSP00000448220.1:p.Arg27=
ENST00000552668.1:c.81A>G ENSP00000447320.1:p.Arg27=
NM_002272.3:c.81A>G NP_002263.3:p.Arg27=
NM_002272.4:c.81A>G MANE Select NP_002263.3:p.Arg27=
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