Canonical Allele Identifier: CA2378243

Gene: COL7A1

Linked Data

• dbSNP Id: rs369383524
• ExAC: 3:48605228 G / T
• gnomAD v2: 3-48605228-G-T
• gnomAD v3: 3-48567795-G-T
• gnomAD v4: 3-48567795-G-T
• MyVariant Identifiers: chr3:g.48605228G>T (hg19) ; chr3:g.48567795G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567795G>T , CM000665.2:g.48567795G>T	GRCh38
NC_000003.11:g.48605228G>T , CM000665.1:g.48605228G>T	GRCh37
NC_000003.10:g.48580232G>T	NCBI36
NG_007065.1:g.32458C>A , LRG_286:g.32458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-32C>A MANE Select	ENSP00000506558.1:n.7930-32C>A
ENST00000328333.12:c.7930-32C>A	ENSP00000332371.8:n.7930-32C>A
ENST00000459756.5:n.753-32C>A
ENST00000487017.5:n.4569-32C>A
NM_000094.3:c.7930-32C>A , LRG_286t1:c.7930-32C>A	NP_000085.1:n.7930-32C>A
XM_011533336.1:c.7957-32C>A	XP_011531638.1:n.7957-32C>A
XM_011533337.1:c.7930-32C>A	XP_011531639.1:n.7930-32C>A
XM_011533338.1:c.7897-32C>A	XP_011531640.1:n.7897-32C>A
XR_940369.1:n.7993-32C>A
XR_940370.1:n.7993-32C>A
XR_940371.1:n.7993-32C>A
XM_017005688.1:c.7870-32C>A	XP_016861177.1:n.7870-32C>A
XR_001740003.1:n.7966-32C>A
XR_001740004.1:n.7966-32C>A
XR_001740005.1:n.7966-32C>A
NM_000094.4:c.7930-32C>A MANE Select	NP_000085.1:n.7930-32C>A