Canonical Allele Identifier: CA932053932

Gene: COL17A1

Linked Data

• dbSNP Id: rs2086608176
• gnomAD v3: 10-104064380-A-G
• gnomAD v4: 10-104064380-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064380A>G , CM000672.2:g.104064380A>G	GRCh38
NC_000010.10:g.105824138A>G , CM000672.1:g.105824138A>G	GRCh37
NC_000010.9:g.105814128A>G	NCBI36
NG_007069.1:g.26501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.766+58T>C	ENSP00000358748.3:n.766+58T>C
ENST00000648076.2:c.766+58T>C MANE Select	ENSP00000497653.1:n.766+58T>C
ENST00000649118.1:n.881+58T>C
ENST00000650263.1:c.718+58T>C	ENSP00000497850.1:n.718+58T>C
ENST00000353479.9:c.766+58T>C	ENSP00000340937.5:n.766+58T>C
ENST00000369733.7:c.766+58T>C	ENSP00000358748.3:n.766+58T>C
ENST00000393211.3:c.766+58T>C	ENSP00000376905.3:n.766+58T>C
ENST00000488320.1:n.111+58T>C
NM_000494.3:c.766+58T>C	NP_000485.3:n.766+58T>C
NM_000494.4:c.766+58T>C MANE Select	NP_000485.3:n.766+58T>C