Canonical Allele Identifier: CA2610796375
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834326
ClinVar RCV Id: RCV003694437
gnomAD v4: 10-104034342-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034342G>A , CM000672.2:g.104034342G>A GRCh38
NC_000010.10:g.105794100G>A , CM000672.1:g.105794100G>A GRCh37
NC_000010.9:g.105784090G>A NCBI36
NG_007069.1:g.56539C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3521-8C>T ENSP00000358748.3:n.3521-8C>T
ENST00000648076.2:c.3767-8C>T MANE Select ENSP00000497653.1:n.3767-8C>T
ENST00000353479.9:c.3767-8C>T ENSP00000340937.5:n.3767-8C>T
ENST00000369733.7:c.3521-8C>T ENSP00000358748.3:n.3521-8C>T
NM_000494.3:c.3767-8C>T NP_000485.3:n.3767-8C>T
NM_000494.4:c.3767-8C>T MANE Select NP_000485.3:n.3767-8C>T
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