Canonical Allele Identifier: CA5677805
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3147301
ClinVar RCV Id: RCV004444654
dbSNP Id: rs759888854
ExAC: 10:105794080 C / T
gnomAD v2: 10-105794080-C-T
gnomAD v3: 10-104034322-C-T
gnomAD v4: 10-104034322-C-T
COSMIC: COSM914472
MyVariant Identifiers: chr10:g.105794080C>T (hg19) chr10:g.104034322C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034322C>T , CM000672.2:g.104034322C>T GRCh38
NC_000010.10:g.105794080C>T , CM000672.1:g.105794080C>T GRCh37
NC_000010.9:g.105784070C>T NCBI36
NG_007069.1:g.56559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3533G>A ENSP00000358748.3:p.Arg1178His
ENST00000648076.2:c.3779G>A MANE Select ENSP00000497653.1:p.Arg1260His
ENST00000353479.9:c.3779G>A ENSP00000340937.5:p.Arg1260His
ENST00000369733.7:c.3533G>A ENSP00000358748.3:p.Arg1178His
NM_000494.3:c.3779G>A NP_000485.3:p.Arg1260His
NM_000494.4:c.3779G>A MANE Select NP_000485.3:p.Arg1260His
Search 100 bp 5'
Search 100 bp 3'