Canonical Allele Identifier: CA2378041

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2184476
• ClinVar RCV Id: RCV002632245
• dbSNP Id: rs138263686
• ExAC: 3:48603723 C / T
• gnomAD v2: 3-48603723-C-T
• gnomAD v3: 3-48566290-C-T
• gnomAD v4: 3-48566290-C-T
• MyVariant Identifiers: chr3:g.48603723C>T (hg19) ; chr3:g.48566290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566290C>T , CM000665.2:g.48566290C>T	GRCh38
NC_000003.11:g.48603723C>T , CM000665.1:g.48603723C>T	GRCh37
NC_000003.10:g.48578727C>T	NCBI36
NG_007065.1:g.33963G>A , LRG_286:g.33963G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8384G>A MANE Select	ENSP00000506558.1:p.Arg2795His
ENST00000328333.12:c.8384G>A	ENSP00000332371.8:p.Arg2795His
ENST00000487017.5:n.5023G>A
NM_000094.3:c.8384G>A , LRG_286t1:c.8384G>A	NP_000085.1:p.Arg2795His
XM_011533336.1:c.8411G>A	XP_011531638.1:p.Arg2804His
XM_011533337.1:c.8384G>A	XP_011531639.1:p.Arg2795His
XM_011533338.1:c.8351G>A	XP_011531640.1:p.Arg2784His
XR_940369.1:n.8447G>A
XR_940370.1:n.8447G>A
XR_940371.1:n.8447G>A
XM_017005688.1:c.8324G>A	XP_016861177.1:p.Arg2775His
XR_001740003.1:n.8420G>A
XR_001740004.1:n.8420G>A
XR_001740005.1:n.8420G>A
NM_000094.4:c.8384G>A MANE Select	NP_000085.1:p.Arg2795His