Canonical Allele Identifier: CA378065896
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458976
ClinVar RCV Id: RCV001958783 RCV002291305
dbSNP Id: rs2086256572
gnomAD v3: 10-104034620-C-G
gnomAD v4: 10-104034620-C-G
MyVariant Identifiers: chr10:g.105794378C>G (hg19) chr10:g.104034620C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034620C>G , CM000672.2:g.104034620C>G GRCh38
NC_000010.10:g.105794378C>G , CM000672.1:g.105794378C>G GRCh37
NC_000010.9:g.105784368C>G NCBI36
NG_007069.1:g.56261G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3520+1G>C ENSP00000358748.3:n.3520+1G>C
ENST00000648076.2:c.3766+1G>C MANE Select ENSP00000497653.1:n.3766+1G>C
ENST00000353479.9:c.3766+1G>C ENSP00000340937.5:n.3766+1G>C
ENST00000369733.7:c.3520+1G>C ENSP00000358748.3:n.3520+1G>C
NM_000494.3:c.3766+1G>C NP_000485.3:n.3766+1G>C
NM_000494.4:c.3766+1G>C MANE Select NP_000485.3:n.3766+1G>C
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