Canonical Allele Identifier: CA5679158
Gene: COL17A1 HGNC NCBI
gnomAD v2:
10:105819872 C / T
gnomAD v3:
10:104060114 C / T
gnomAD v4:
chr10-104060114-C-T
Joint Max Group AF 0.00000953 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000493091
ClinVar Variation:
430394
dbSNP:
201940939
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104060114C>T , CM000672.2:g.104060114C>T GRCh38
NC_000010.10:g.105819872C>T , CM000672.1:g.105819872C>T GRCh37
NC_000010.9:g.105809862C>T NCBI36
NG_007069.1:g.30767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1141+5G>A ENSP00000358748.3:n.1141+5G>A
ENST00000648076.2:c.1141+5G>A MANE Select ENSP00000497653.1:n.1141+5G>A
ENST00000650263.1:c.1093+5G>A ENSP00000497850.1:n.1093+5G>A
ENST00000353479.9:c.1141+5G>A ENSP00000340937.5:n.1141+5G>A
ENST00000369733.7:c.1141+5G>A ENSP00000358748.3:n.1141+5G>A
ENST00000393211.3:c.1141+5G>A ENSP00000376905.3:n.1141+5G>A
ENST00000488320.1:n.592+5G>A
NM_000494.3:c.1141+5G>A NP_000485.3:n.1141+5G>A
NM_000494.4:c.1141+5G>A MANE Select NP_000485.3:n.1141+5G>A
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