Canonical Allele Identifier: CA6580834

Gene: KRT6B

Linked Data

• ClinVar Variation Id: 3116578
• ClinVar RCV Id: RCV004414426
• dbSNP Id: rs537928073
• ExAC: 12:52845391 G / A
• gnomAD v2: 12-52845391-G-A
• gnomAD v3: 12-52451607-G-A
• gnomAD v4: 12-52451607-G-A
• COSMIC: COSM162060
• MyVariant Identifiers: chr12:g.52845391G>A (hg19) ; chr12:g.52451607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451607G>A , CM000674.2:g.52451607G>A	GRCh38
NC_000012.11:g.52845391G>A , CM000674.1:g.52845391G>A	GRCh37
NC_000012.10:g.51131658G>A	NCBI36
NG_008299.1:g.5520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.472C>T MANE Select	ENSP00000252252.3:p.Arg158Trp
ENST00000252252.3:c.472C>T	ENSP00000252252.3:p.Arg158Trp
NM_005555.3:c.472C>T	NP_005546.2:p.Arg158Trp
NM_005555.4:c.472C>T MANE Select	NP_005546.2:p.Arg158Trp