Canonical Allele Identifier: CA2378215

Gene: COL7A1

Linked Data

• dbSNP Id: rs781598212
• ExAC: 3:48605101 G / A
• gnomAD v2: 3-48605101-G-A
• gnomAD v3: 3-48567668-G-A
• gnomAD v4: 3-48567668-G-A
• MyVariant Identifiers: chr3:g.48605101G>A (hg19) ; chr3:g.48567668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567668G>A , CM000665.2:g.48567668G>A	GRCh38
NC_000003.11:g.48605101G>A , CM000665.1:g.48605101G>A	GRCh37
NC_000003.10:g.48580105G>A	NCBI36
NG_007065.1:g.32585C>T , LRG_286:g.32585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-32C>T MANE Select	ENSP00000506558.1:n.7984-32C>T
ENST00000328333.12:c.7984-32C>T	ENSP00000332371.8:n.7984-32C>T
ENST00000487017.5:n.4623-32C>T
NM_000094.3:c.7984-32C>T , LRG_286t1:c.7984-32C>T	NP_000085.1:n.7984-32C>T
XM_011533336.1:c.8011-32C>T	XP_011531638.1:n.8011-32C>T
XM_011533337.1:c.7984-32C>T	XP_011531639.1:n.7984-32C>T
XM_011533338.1:c.7951-32C>T	XP_011531640.1:n.7951-32C>T
XR_940369.1:n.8047-32C>T
XR_940370.1:n.8047-32C>T
XR_940371.1:n.8047-32C>T
XM_017005688.1:c.7924-32C>T	XP_016861177.1:n.7924-32C>T
XR_001740003.1:n.8020-32C>T
XR_001740004.1:n.8020-32C>T
XR_001740005.1:n.8020-32C>T
NM_000094.4:c.7984-32C>T MANE Select	NP_000085.1:n.7984-32C>T