Canonical Allele Identifier: CA471503000
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855080
ClinVar RCV Id: RCV003701225
gnomAD v4: 10-104034194-G-T
MyVariant Identifiers: chr10:g.105793952G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034194G>T , CM000672.2:g.104034194G>T GRCh38
NC_000010.10:g.105793952G>T , CM000672.1:g.105793952G>T GRCh37
NC_000010.9:g.105783942G>T NCBI36
NG_007069.1:g.56687C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3661C>A ENSP00000358748.3:p.Arg1221=
ENST00000648076.2:c.3907C>A MANE Select ENSP00000497653.1:p.Arg1303=
ENST00000353479.9:c.3907C>A ENSP00000340937.5:p.Arg1303=
ENST00000369733.7:c.3661C>A ENSP00000358748.3:p.Arg1221=
NM_000494.3:c.3907C>A NP_000485.3:p.Arg1303=
NM_000494.4:c.3907C>A MANE Select NP_000485.3:p.Arg1303=
Search 100 bp 5'
Search 100 bp 3'