Canonical Allele Identifier: CA237279178
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1049148411
gnomAD v2: 12-53208183-A-C
gnomAD v3: 12-52814399-A-C
gnomAD v4: 12-52814399-A-C
MyVariant Identifiers: chr12:g.53208183A>C (hg19) chr12:g.52814399A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814399A>C , CM000674.2:g.52814399A>C GRCh38
NC_000012.11:g.53208183A>C , CM000674.1:g.53208183A>C GRCh37
NC_000012.10:g.51494450A>C NCBI36
NG_007380.1:g.5153T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.1:c.-341T>G ENSP00000448220.1:n.-341T>G
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