Canonical Allele Identifier: CA932074697
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086458508
gnomAD v3: 10-104050542-C-T
gnomAD v4: 10-104050542-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050542C>T , CM000672.2:g.104050542C>T GRCh38
NC_000010.10:g.105810300C>T , CM000672.1:g.105810300C>T GRCh37
NC_000010.9:g.105800290C>T NCBI36
NG_007069.1:g.40339G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+79G>A ENSP00000358748.3:n.2128+79G>A
ENST00000648076.2:c.2128+79G>A MANE Select ENSP00000497653.1:n.2128+79G>A
ENST00000353479.9:c.2128+79G>A ENSP00000340937.5:n.2128+79G>A
ENST00000369733.7:c.2128+79G>A ENSP00000358748.3:n.2128+79G>A
NM_000494.3:c.2128+79G>A NP_000485.3:n.2128+79G>A
NM_000494.4:c.2128+79G>A MANE Select NP_000485.3:n.2128+79G>A
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