Canonical Allele Identifier: CA2378046

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1165849
• ClinVar RCV Id: RCV001513338 ; RCV001579901
• dbSNP Id: rs78922394
• ExAC: 3:48603767 A / G
• gnomAD v2: 3-48603767-A-G
• gnomAD v3: 3-48566334-A-G
• gnomAD v4: 3-48566334-A-G
• MyVariant Identifiers: chr3:g.48603767A>G (hg19) ; chr3:g.48566334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566334A>G , CM000665.2:g.48566334A>G	GRCh38
NC_000003.11:g.48603767A>G , CM000665.1:g.48603767A>G	GRCh37
NC_000003.10:g.48578771A>G	NCBI36
NG_007065.1:g.33919T>C , LRG_286:g.33919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8359-19T>C MANE Select	ENSP00000506558.1:n.8359-19T>C
ENST00000328333.12:c.8359-19T>C	ENSP00000332371.8:n.8359-19T>C
ENST00000487017.5:n.4998-19T>C
NM_000094.3:c.8359-19T>C , LRG_286t1:c.8359-19T>C	NP_000085.1:n.8359-19T>C
XM_011533336.1:c.8386-19T>C	XP_011531638.1:n.8386-19T>C
XM_011533337.1:c.8359-19T>C	XP_011531639.1:n.8359-19T>C
XM_011533338.1:c.8326-19T>C	XP_011531640.1:n.8326-19T>C
XR_940369.1:n.8422-19T>C
XR_940370.1:n.8422-19T>C
XR_940371.1:n.8422-19T>C
XM_017005688.1:c.8299-19T>C	XP_016861177.1:n.8299-19T>C
XR_001740003.1:n.8395-19T>C
XR_001740004.1:n.8395-19T>C
XR_001740005.1:n.8395-19T>C
NM_000094.4:c.8359-19T>C MANE Select	NP_000085.1:n.8359-19T>C