Canonical Allele Identifier: CA2378342

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 799715
• ClinVar RCV Id: RCV000983332 ; RCV004030080
• dbSNP Id: rs141873874
• ExAC: 3:48606253 G / A
• gnomAD v2: 3-48606253-G-A
• gnomAD v3: 3-48568820-G-A
• gnomAD v4: 3-48568820-G-A
• MyVariant Identifiers: chr3:g.48606253G>A (hg19) ; chr3:g.48568820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568820G>A , CM000665.2:g.48568820G>A	GRCh38
NC_000003.11:g.48606253G>A , CM000665.1:g.48606253G>A	GRCh37
NC_000003.10:g.48581257G>A	NCBI36
NG_007065.1:g.31433C>T , LRG_286:g.31433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7722C>T MANE Select	ENSP00000506558.1:p.Ala2574=
ENST00000328333.12:c.7722C>T	ENSP00000332371.8:p.Ala2574=
ENST00000459756.5:n.545C>T
ENST00000467985.1:n.568C>T
ENST00000487017.5:n.4361C>T
NM_000094.3:c.7722C>T , LRG_286t1:c.7722C>T	NP_000085.1:p.Ala2574=
XM_011533336.1:c.7749C>T	XP_011531638.1:p.Ala2583=
XM_011533337.1:c.7722C>T	XP_011531639.1:p.Ala2574=
XM_011533338.1:c.7689C>T	XP_011531640.1:p.Ala2563=
XM_011533339.1:c.7749C>T	XP_011531641.1:p.Ala2583=
XR_940369.1:n.7785C>T
XR_940370.1:n.7785C>T
XR_940371.1:n.7785C>T
XR_940372.1:n.7759C>T
XM_017005688.1:c.7662C>T	XP_016861177.1:p.Ala2554=
XM_017005689.1:c.7722C>T	XP_016861178.1:p.Ala2574=
XR_001740003.1:n.7758C>T
XR_001740004.1:n.7758C>T
XR_001740005.1:n.7758C>T
XR_001740006.1:n.7732C>T
NM_000094.4:c.7722C>T MANE Select	NP_000085.1:p.Ala2574=