Canonical Allele Identifier: CA5677548
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298680
ClinVar RCV Id: RCV000281697 RCV003930247
dbSNP Id: rs149754696
ExAC: 10:105791985 T / C
gnomAD v2: 10-105791985-T-C
gnomAD v3: 10-104032227-T-C
gnomAD v4: 10-104032227-T-C
MyVariant Identifiers: chr10:g.105791985T>C (hg19) chr10:g.104032227T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104032227T>C , CM000672.2:g.104032227T>C GRCh38
NC_000010.10:g.105791985T>C , CM000672.1:g.105791985T>C GRCh37
NC_000010.9:g.105781975T>C NCBI36
NG_007069.1:g.58654A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.4256A>G ENSP00000358748.3:n.4256A>G
ENST00000647647.1:c.763A>G
ENST00000648076.2:c.*8A>G MANE Select ENSP00000497653.1:n.*8A>G
ENST00000353479.9:c.*8A>G ENSP00000340937.5:n.*8A>G
ENST00000369733.7:c.*8A>G ENSP00000358748.3:n.*8A>G
ENST00000433822.1:c.208A>G
NM_000494.3:c.*8A>G NP_000485.3:n.*8A>G
NM_000494.4:c.*8A>G MANE Select NP_000485.3:n.*8A>G
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