Canonical Allele Identifier: CA216885

Gene: KRT14

Linked Data

• ClinVar Variation Id: 66333
• ClinVar RCV Id: RCV000056699 ; RCV000415603
• dbSNP Id: rs267607391
• ExAC: 17:39743068 G / A
• gnomAD v2: 17-39743068-G-A
• gnomAD v3: 17-41586816-G-A
• gnomAD v4: 17-41586816-G-A
• MyVariant Identifiers: chr17:g.39743068G>A (hg19) ; chr17:g.41586816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586816G>A , CM000679.2:g.41586816G>A	GRCh38
NC_000017.10:g.39743068G>A , CM000679.1:g.39743068G>A	GRCh37
NC_000017.9:g.36996594G>A	NCBI36
NG_008624.1:g.5080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.19C>T MANE Select	ENSP00000167586.6:p.Gln7Ter
ENST00000167586.6:c.19C>T	ENSP00000167586.6:p.Gln7Ter
NM_000526.4:c.19C>T	NP_000517.2:p.Gln7Ter
NM_000526.5:c.19C>T MANE Select	NP_000517.3:p.Gln7Ter