Canonical Allele Identifier: CA399484142

Gene: KRT14

Linked Data

• dbSNP Id: rs1235530318
• gnomAD v2: 17-39743067-T-G
• gnomAD v4: 17-41586815-T-G
• MyVariant Identifiers: chr17:g.39743067T>G (hg19) ; chr17:g.41586815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586815T>G , CM000679.2:g.41586815T>G	GRCh38
NC_000017.10:g.39743067T>G , CM000679.1:g.39743067T>G	GRCh37
NC_000017.9:g.36996593T>G	NCBI36
NG_008624.1:g.5081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.20A>C MANE Select	ENSP00000167586.6:p.Gln7Pro
ENST00000167586.6:c.20A>C	ENSP00000167586.6:p.Gln7Pro
NM_000526.4:c.20A>C	NP_000517.2:p.Gln7Pro
NM_000526.5:c.20A>C MANE Select	NP_000517.3:p.Gln7Pro