Canonical Allele Identifier: CA8548948

Gene: KRT12

Linked Data

• ClinVar Variation Id: 3048993
• ClinVar RCV Id: RCV003958906
• dbSNP Id: rs141949869
• ExAC: 17:39023279 C / T
• gnomAD v2: 17-39023279-C-T
• gnomAD v3: 17-40867027-C-T
• gnomAD v4: 17-40867027-C-T
• MyVariant Identifiers: chr17:g.39023279C>T (hg19) ; chr17:g.40867027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40867027C>T , CM000679.2:g.40867027C>T	GRCh38
NC_000017.10:g.39023279C>T , CM000679.1:g.39023279C>T	GRCh37
NC_000017.9:g.36276805C>T	NCBI36
NG_008077.1:g.5184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251643.5:c.160G>A MANE Select	ENSP00000251643.4:p.Gly54Arg
ENST00000647902.1:c.160G>A	ENSP00000497770.1:p.Gly54Arg
ENST00000251643.4:c.160G>A	ENSP00000251643.4:p.Gly54Arg
NM_000223.3:c.160G>A	NP_000214.1:p.Gly54Arg
XR_934754.1:n.1500+16167C>T
XR_934754.2:n.2008+16167C>T
NM_000223.4:c.160G>A MANE Select	NP_000214.1:p.Gly54Arg