Canonical Allele Identifier: CA595685439

Gene: COL17A1

Linked Data

• dbSNP Id: rs1248340911
• gnomAD v2: 10-105831733-C-A
• gnomAD v3: 10-104071975-C-A
• gnomAD v4: 10-104071975-C-A
• MyVariant Identifiers: chr10:g.105831733C>A (hg19) ; chr10:g.104071975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104071975C>A , CM000672.2:g.104071975C>A	GRCh38
NC_000010.10:g.105831733C>A , CM000672.1:g.105831733C>A	GRCh37
NC_000010.9:g.105821723C>A	NCBI36
NG_007069.1:g.18906G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.463+57G>T	ENSP00000358748.3:n.463+57G>T
ENST00000648076.2:c.463+57G>T MANE Select	ENSP00000497653.1:n.463+57G>T
ENST00000649118.1:n.578+57G>T
ENST00000650263.1:c.415+57G>T	ENSP00000497850.1:n.415+57G>T
ENST00000353479.9:c.463+57G>T	ENSP00000340937.5:n.463+57G>T
ENST00000369733.7:c.463+57G>T	ENSP00000358748.3:n.463+57G>T
ENST00000393211.3:c.463+57G>T	ENSP00000376905.3:n.463+57G>T
ENST00000483876.1:n.513+57G>T
NM_000494.3:c.463+57G>T	NP_000485.3:n.463+57G>T
NM_000494.4:c.463+57G>T MANE Select	NP_000485.3:n.463+57G>T