Canonical Allele Identifier: CA5677744
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1940756
ClinVar RCV Id: RCV002639490
dbSNP Id: rs752126233
ExAC: 10:105793859 T / C
gnomAD v2: 10-105793859-T-C
gnomAD v3: 10-104034101-T-C
gnomAD v4: 10-104034101-T-C
MyVariant Identifiers: chr10:g.105793859T>C (hg19) chr10:g.104034101T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034101T>C , CM000672.2:g.104034101T>C GRCh38
NC_000010.10:g.105793859T>C , CM000672.1:g.105793859T>C GRCh37
NC_000010.9:g.105783849T>C NCBI36
NG_007069.1:g.56780A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3754A>G ENSP00000358748.3:p.Arg1252Gly
ENST00000647647.1:c.30A>G
ENST00000648076.2:c.4000A>G MANE Select ENSP00000497653.1:p.Arg1334Gly
ENST00000353479.9:c.4000A>G ENSP00000340937.5:p.Arg1334Gly
ENST00000369733.7:c.3754A>G ENSP00000358748.3:p.Arg1252Gly
NM_000494.3:c.4000A>G NP_000485.3:p.Arg1334Gly
NM_000494.4:c.4000A>G MANE Select NP_000485.3:p.Arg1334Gly
Search 100 bp 5'
Search 100 bp 3'