Canonical Allele Identifier: CA237279139
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs376501288
gnomAD v3: 12-52814304-C-G
gnomAD v4: 12-52814304-C-G
MyVariant Identifiers: chr12:g.53208088C>G (hg19) chr12:g.52814304C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814304C>G , CM000674.2:g.52814304C>G GRCh38
NC_000012.11:g.53208088C>G , CM000674.1:g.53208088C>G GRCh37
NC_000012.10:g.51494355C>G NCBI36
NG_007380.1:g.5248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.1:c.-246G>C ENSP00000448220.1:n.-246G>C
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