Canonical Allele Identifier: CA5679325

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 2959375
• ClinVar RCV Id: RCV003819574
• dbSNP Id: rs761011735
• ExAC: 10:105824254 G / A
• gnomAD v2: 10-105824254-G-A
• gnomAD v4: 10-104064496-G-A
• MyVariant Identifiers: chr10:g.105824254G>A (hg19) ; chr10:g.104064496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064496G>A , CM000672.2:g.104064496G>A	GRCh38
NC_000010.10:g.105824254G>A , CM000672.1:g.105824254G>A	GRCh37
NC_000010.9:g.105814244G>A	NCBI36
NG_007069.1:g.26385C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.708C>T	ENSP00000358748.3:p.Asn236=
ENST00000648076.2:c.708C>T MANE Select	ENSP00000497653.1:p.Asn236=
ENST00000649118.1:n.823C>T
ENST00000650263.1:c.660C>T	ENSP00000497850.1:p.Asn220=
ENST00000353479.9:c.708C>T	ENSP00000340937.5:p.Asn236=
ENST00000369733.7:c.708C>T	ENSP00000358748.3:p.Asn236=
ENST00000393211.3:c.708C>T	ENSP00000376905.3:p.Asn236=
ENST00000488320.1:n.53C>T
NM_000494.3:c.708C>T	NP_000485.3:p.Asn236=
NM_000494.4:c.708C>T MANE Select	NP_000485.3:p.Asn236=