Canonical Allele Identifier: CA471503024
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 742537
ClinVar RCV Id: RCV000918807
dbSNP Id: rs1589554795
gnomAD v4: 10-104034204-T-G
MyVariant Identifiers: chr10:g.105793962T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034204T>G , CM000672.2:g.104034204T>G GRCh38
NC_000010.10:g.105793962T>G , CM000672.1:g.105793962T>G GRCh37
NC_000010.9:g.105783952T>G NCBI36
NG_007069.1:g.56677A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3651A>C ENSP00000358748.3:p.Ser1217=
ENST00000648076.2:c.3897A>C MANE Select ENSP00000497653.1:p.Ser1299=
ENST00000353479.9:c.3897A>C ENSP00000340937.5:p.Ser1299=
ENST00000369733.7:c.3651A>C ENSP00000358748.3:p.Ser1217=
NM_000494.3:c.3897A>C NP_000485.3:p.Ser1299=
NM_000494.4:c.3897A>C MANE Select NP_000485.3:p.Ser1299=
Search 100 bp 5'
Search 100 bp 3'