Canonical Allele Identifier: CA217370

Gene: KRT16

Linked Data

• ClinVar Variation Id: 14607
• ClinVar RCV Id: RCV000015711 ; RCV000057025 ; RCV004017253
• dbSNP Id: rs59328451
• ExAC: 17:39766801 T / A
• gnomAD v2: 17-39766801-T-A
• gnomAD v3: 17-41610549-T-A
• gnomAD v4: 17-41610549-T-A
• MyVariant Identifiers: chr17:g.39766801T>A (hg19) ; chr17:g.41610549T>A (hg38)
• PubMed: PMID:11359398

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41610549T>A , CM000679.2:g.41610549T>A	GRCh38
NC_000017.10:g.39766801T>A , CM000679.1:g.39766801T>A	GRCh37
NC_000017.9:g.37020327T>A	NCBI36
NG_008301.1:g.7279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301653.9:c.1062A>T MANE Select	ENSP00000301653.3:p.Lys354Asn
ENST00000301653.8:c.1062A>T	ENSP00000301653.3:p.Lys354Asn
ENST00000593067.1:c.348A>T	ENSP00000467124.1:p.Lys116Asn
NM_005557.3:c.1062A>T	NP_005548.2:p.Lys354Asn
NM_005557.4:c.1062A>T MANE Select	NP_005548.2:p.Lys354Asn