Canonical Allele Identifier: CA5677807
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879945
ClinVar RCV Id: RCV001107867
dbSNP Id: rs770168630
ExAC: 10:105794081 G / A
gnomAD v2: 10-105794081-G-A
gnomAD v3: 10-104034323-G-A
gnomAD v4: 10-104034323-G-A
MyVariant Identifiers: chr10:g.105794081G>A (hg19) chr10:g.104034323G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034323G>A , CM000672.2:g.104034323G>A GRCh38
NC_000010.10:g.105794081G>A , CM000672.1:g.105794081G>A GRCh37
NC_000010.9:g.105784071G>A NCBI36
NG_007069.1:g.56558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3532C>T ENSP00000358748.3:p.Arg1178Cys
ENST00000648076.2:c.3778C>T MANE Select ENSP00000497653.1:p.Arg1260Cys
ENST00000353479.9:c.3778C>T ENSP00000340937.5:p.Arg1260Cys
ENST00000369733.7:c.3532C>T ENSP00000358748.3:p.Arg1178Cys
NM_000494.3:c.3778C>T NP_000485.3:p.Arg1260Cys
NM_000494.4:c.3778C>T MANE Select NP_000485.3:p.Arg1260Cys
Search 100 bp 5'
Search 100 bp 3'