Canonical Allele Identifier: CA2610801159
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826756
ClinVar RCV Id: RCV003681447
gnomAD v4: 10-104057181-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057181G>C , CM000672.2:g.104057181G>C GRCh38
NC_000010.10:g.105816939G>C , CM000672.1:g.105816939G>C GRCh37
NC_000010.9:g.105806929G>C NCBI36
NG_007069.1:g.33700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1268-9C>G ENSP00000358748.3:n.1268-9C>G
ENST00000648076.2:c.1268-9C>G MANE Select ENSP00000497653.1:n.1268-9C>G
ENST00000650263.1:c.1220-9C>G ENSP00000497850.1:n.1220-9C>G
ENST00000353479.9:c.1268-9C>G ENSP00000340937.5:n.1268-9C>G
ENST00000369733.7:c.1268-9C>G ENSP00000358748.3:n.1268-9C>G
NM_000494.3:c.1268-9C>G NP_000485.3:n.1268-9C>G
NM_000494.4:c.1268-9C>G MANE Select NP_000485.3:n.1268-9C>G
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