Canonical Allele Identifier: CA947712566
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1939866147
gnomAD v3: 12-52809347-C-T
gnomAD v4: 12-52809347-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809347C>T , CM000674.2:g.52809347C>T GRCh38
NC_000012.11:g.53203131C>T , CM000674.1:g.53203131C>T GRCh37
NC_000012.10:g.51489398C>T NCBI36
NG_007380.1:g.10205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.834+36G>A MANE Select ENSP00000448220.1:n.834+36G>A
ENST00000548097.5:c.*346+36G>A ENSP00000449755.1:n.*346+36G>A
ENST00000549295.1:n.304G>A
ENST00000551956.1:c.834+36G>A ENSP00000448220.1:n.834+36G>A
NM_002272.3:c.834+36G>A NP_002263.3:n.834+36G>A
NM_002272.4:c.834+36G>A MANE Select NP_002263.3:n.834+36G>A
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