Canonical Allele Identifier: CA216963

Gene: KRT14

Linked Data

• ClinVar Variation Id: 66369
• ClinVar RCV Id: RCV000015722 ; RCV000056741
• dbSNP Id: rs200779504
• ExAC: 17:39741311 T / G
• gnomAD v2: 17-39741311-T-G
• gnomAD v3: 17-41585059-T-G
• gnomAD v4: 17-41585059-T-G
• MyVariant Identifiers: chr17:g.39741311T>G (hg19) ; chr17:g.41585059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41585059T>G , CM000679.2:g.41585059T>G	GRCh38
NC_000017.10:g.39741311T>G , CM000679.1:g.39741311T>G	GRCh37
NC_000017.9:g.36994837T>G	NCBI36
NG_008624.1:g.6837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.526-2A>C MANE Select	ENSP00000167586.6:n.526-2A>C
ENST00000167586.6:c.526-2A>C	ENSP00000167586.6:n.526-2A>C
NM_000526.4:c.526-2A>C	NP_000517.2:n.526-2A>C
NM_000526.5:c.526-2A>C MANE Select	NP_000517.3:n.526-2A>C