Canonical Allele Identifier: CA5677630

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298683
• ClinVar RCV Id: RCV000294672 ; RCV000898639 ; RCV003940127
• dbSNP Id: rs146841330
• ExAC: 10:105792717 G / A
• gnomAD v2: 10-105792717-G-A
• gnomAD v3: 10-104032959-G-A
• gnomAD v4: 10-104032959-G-A
• MyVariant Identifiers: chr10:g.105792717G>A (hg19) ; chr10:g.104032959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104032959G>A , CM000672.2:g.104032959G>A	GRCh38
NC_000010.10:g.105792717G>A , CM000672.1:g.105792717G>A	GRCh37
NC_000010.9:g.105782707G>A	NCBI36
NG_007069.1:g.57922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.4058C>T	ENSP00000358748.3:p.Ala1353Val
ENST00000647647.1:c.565C>T
ENST00000648076.2:c.4304C>T MANE Select	ENSP00000497653.1:p.Ala1435Val
ENST00000353479.9:c.4304C>T	ENSP00000340937.5:p.Ala1435Val
ENST00000369733.7:c.4058C>T	ENSP00000358748.3:p.Ala1353Val
ENST00000433822.1:c.10C>T
NM_000494.3:c.4304C>T	NP_000485.3:p.Ala1435Val
NM_000494.4:c.4304C>T MANE Select	NP_000485.3:p.Ala1435Val