Canonical Allele Identifier: CA378079935

Gene: COL17A1

Linked Data

• dbSNP Id: rs774098820
• gnomAD v2: 10-105831826-G-A
• gnomAD v4: 10-104072068-G-A
• COSMIC: COSM914490
• MyVariant Identifiers: chr10:g.105831826G>A (hg19) ; chr10:g.104072068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104072068G>A , CM000672.2:g.104072068G>A	GRCh38
NC_000010.10:g.105831826G>A , CM000672.1:g.105831826G>A	GRCh37
NC_000010.9:g.105821816G>A	NCBI36
NG_007069.1:g.18813C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.427C>T	ENSP00000358748.3:p.Arg143Ter
ENST00000648076.2:c.427C>T MANE Select	ENSP00000497653.1:p.Arg143Ter
ENST00000649118.1:n.542C>T
ENST00000650263.1:c.379C>T	ENSP00000497850.1:p.Arg127Ter
ENST00000353479.9:c.427C>T	ENSP00000340937.5:p.Arg143Ter
ENST00000369733.7:c.427C>T	ENSP00000358748.3:p.Arg143Ter
ENST00000393211.3:c.427C>T	ENSP00000376905.3:p.Arg143Ter
ENST00000483876.1:n.477C>T
NM_000494.3:c.427C>T	NP_000485.3:p.Arg143Ter
NM_000494.4:c.427C>T MANE Select	NP_000485.3:p.Arg143Ter