Canonical Allele Identifier: CA659204178

Gene: COL17A1

Linked Data

• dbSNP Id: rs766157625
• gnomAD v3: 10-104072000-C-G
• gnomAD v4: 10-104072000-C-G
• MyVariant Identifiers: chr10:g.105831758C>G (hg19) ; chr10:g.104072000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104072000C>G , CM000672.2:g.104072000C>G	GRCh38
NC_000010.10:g.105831758C>G , CM000672.1:g.105831758C>G	GRCh37
NC_000010.9:g.105821748C>G	NCBI36
NG_007069.1:g.18881G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.463+32G>C	ENSP00000358748.3:n.463+32G>C
ENST00000648076.2:c.463+32G>C MANE Select	ENSP00000497653.1:n.463+32G>C
ENST00000649118.1:n.578+32G>C
ENST00000650263.1:c.415+32G>C	ENSP00000497850.1:n.415+32G>C
ENST00000353479.9:c.463+32G>C	ENSP00000340937.5:n.463+32G>C
ENST00000369733.7:c.463+32G>C	ENSP00000358748.3:n.463+32G>C
ENST00000393211.3:c.463+32G>C	ENSP00000376905.3:n.463+32G>C
ENST00000483876.1:n.513+32G>C
NM_000494.3:c.463+32G>C	NP_000485.3:n.463+32G>C
NM_000494.4:c.463+32G>C MANE Select	NP_000485.3:n.463+32G>C