Canonical Allele Identifier: CA5677721

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298688
• ClinVar RCV Id: RCV000303490 ; RCV002520535 ; RCV002504049 ; RCV002520534
• dbSNP Id: rs143021968
• ExAC: 10:105793778 C / T
• gnomAD v2: 10-105793778-C-T
• gnomAD v3: 10-104034020-C-T
• gnomAD v4: 10-104034020-C-T
• MyVariant Identifiers: chr10:g.105793778C>T (hg19) ; chr10:g.104034020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034020C>T , CM000672.2:g.104034020C>T	GRCh38
NC_000010.10:g.105793778C>T , CM000672.1:g.105793778C>T	GRCh37
NC_000010.9:g.105783768C>T	NCBI36
NG_007069.1:g.56861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3835G>A	ENSP00000358748.3:p.Gly1279Arg
ENST00000647647.1:c.111G>A
ENST00000648076.2:c.4081G>A MANE Select	ENSP00000497653.1:p.Gly1361Arg
ENST00000353479.9:c.4081G>A	ENSP00000340937.5:p.Gly1361Arg
ENST00000369733.7:c.3835G>A	ENSP00000358748.3:p.Gly1279Arg
NM_000494.3:c.4081G>A	NP_000485.3:p.Gly1361Arg
NM_000494.4:c.4081G>A MANE Select	NP_000485.3:p.Gly1361Arg