Canonical Allele Identifier: CA6588012
Gene: KRT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1665660
ClinVar RCV Id: RCV002203253
dbSNP Id: rs3887954
ExAC: 12:53186088 G / C
gnomAD v2: 12-53186088-G-C
gnomAD v3: 12-52792304-G-C
gnomAD v4: 12-52792304-G-C
MyVariant Identifiers: chr12:g.53186088G>C (hg19) chr12:g.52792304G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52792304G>C , CM000674.2:g.52792304G>C GRCh38
NC_000012.11:g.53186088G>C , CM000674.1:g.53186088G>C GRCh37
NC_000012.10:g.51472355G>C NCBI36
NG_008350.1:g.8805C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000417996.2:c.1123C>G MANE Select ENSP00000413479.2:p.Arg375Gly
NM_057088.2:c.1123C>G NP_476429.2:p.Arg375Gly
XM_011538324.1:c.763C>G XP_011536626.1:p.Arg255Gly
XM_024448975.1:c.1387C>G XP_024304743.1:p.Arg463Gly
NM_057088.3:c.1123C>G MANE Select NP_476429.2:p.Arg375Gly
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