Canonical Allele Identifier: CA6580832
Gene: KRT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2345991
ClinVar RCV Id: RCV002936545
dbSNP Id: rs749707973
ExAC: 12:52845390 C / T
gnomAD v2: 12-52845390-C-T
gnomAD v3: 12-52451606-C-T
gnomAD v4: 12-52451606-C-T
COSMIC: COSM6339494
MyVariant Identifiers: chr12:g.52845390C>T (hg19) chr12:g.52451606C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451606C>T , CM000674.2:g.52451606C>T GRCh38
NC_000012.11:g.52845390C>T , CM000674.1:g.52845390C>T GRCh37
NC_000012.10:g.51131657C>T NCBI36
NG_008299.1:g.5521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.473G>A MANE Select ENSP00000252252.3:p.Arg158Gln
ENST00000252252.3:c.473G>A ENSP00000252252.3:p.Arg158Gln
NM_005555.3:c.473G>A NP_005546.2:p.Arg158Gln
NM_005555.4:c.473G>A MANE Select NP_005546.2:p.Arg158Gln
Search 100 bp 5'
Search 100 bp 3'