Canonical Allele Identifier: CA5677810

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298691
• ClinVar RCV Id: RCV000316322
• dbSNP Id: rs749875359
• ExAC: 10:105794087 C / T
• gnomAD v2: 10-105794087-C-T
• gnomAD v3: 10-104034329-C-T
• gnomAD v4: 10-104034329-C-T
• MyVariant Identifiers: chr10:g.105794087C>T (hg19) ; chr10:g.104034329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034329C>T , CM000672.2:g.104034329C>T	GRCh38
NC_000010.10:g.105794087C>T , CM000672.1:g.105794087C>T	GRCh37
NC_000010.9:g.105784077C>T	NCBI36
NG_007069.1:g.56552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3526G>A	ENSP00000358748.3:p.Asp1176Asn
ENST00000648076.2:c.3772G>A MANE Select	ENSP00000497653.1:p.Asp1258Asn
ENST00000353479.9:c.3772G>A	ENSP00000340937.5:p.Asp1258Asn
ENST00000369733.7:c.3526G>A	ENSP00000358748.3:p.Asp1176Asn
NM_000494.3:c.3772G>A	NP_000485.3:p.Asp1258Asn
NM_000494.4:c.3772G>A MANE Select	NP_000485.3:p.Asp1258Asn