Canonical Allele Identifier: CA5677628

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298682
• ClinVar RCV Id: RCV000392894 ; RCV000880285
• dbSNP Id: rs143826232
• ExAC: 10:105792704 G / C
• gnomAD v2: 10-105792704-G-C
• gnomAD v3: 10-104032946-G-C
• gnomAD v4: 10-104032946-G-C
• MyVariant Identifiers: chr10:g.105792704G>C (hg19) ; chr10:g.104032946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104032946G>C , CM000672.2:g.104032946G>C	GRCh38
NC_000010.10:g.105792704G>C , CM000672.1:g.105792704G>C	GRCh37
NC_000010.9:g.105782694G>C	NCBI36
NG_007069.1:g.57935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.4071C>G	ENSP00000358748.3:p.Pro1357=
ENST00000647647.1:c.578C>G
ENST00000648076.2:c.4317C>G MANE Select	ENSP00000497653.1:p.Pro1439=
ENST00000353479.9:c.4317C>G	ENSP00000340937.5:p.Pro1439=
ENST00000369733.7:c.4071C>G	ENSP00000358748.3:p.Pro1357=
ENST00000433822.1:c.23C>G
NM_000494.3:c.4317C>G	NP_000485.3:p.Pro1439=
NM_000494.4:c.4317C>G MANE Select	NP_000485.3:p.Pro1439=