Canonical Allele Identifier: CA2378077

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 255114
• ClinVar RCV Id: RCV000250667 ; RCV001513412
• dbSNP Id: rs17256786
• ExAC: 3:48604016 C / G
• gnomAD v2: 3-48604016-C-G
• gnomAD v3: 3-48566583-C-G
• gnomAD v4: 3-48566583-C-G
• MyVariant Identifiers: chr3:g.48604016C>G (hg19) ; chr3:g.48566583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566583C>G , CM000665.2:g.48566583C>G	GRCh38
NC_000003.11:g.48604016C>G , CM000665.1:g.48604016C>G	GRCh37
NC_000003.10:g.48579020C>G	NCBI36
NG_007065.1:g.33670G>C , LRG_286:g.33670G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8305-20G>C MANE Select	ENSP00000506558.1:n.8305-20G>C
ENST00000328333.12:c.8305-20G>C	ENSP00000332371.8:n.8305-20G>C
ENST00000474432.1:n.705-20G>C
ENST00000487017.5:n.4944-20G>C
NM_000094.3:c.8305-20G>C , LRG_286t1:c.8305-20G>C	NP_000085.1:n.8305-20G>C
XM_011533336.1:c.8332-20G>C	XP_011531638.1:n.8332-20G>C
XM_011533337.1:c.8305-20G>C	XP_011531639.1:n.8305-20G>C
XM_011533338.1:c.8272-20G>C	XP_011531640.1:n.8272-20G>C
XR_940369.1:n.8368-20G>C
XR_940370.1:n.8368-20G>C
XR_940371.1:n.8368-20G>C
XM_017005688.1:c.8245-20G>C	XP_016861177.1:n.8245-20G>C
XR_001740003.1:n.8341-20G>C
XR_001740004.1:n.8341-20G>C
XR_001740005.1:n.8341-20G>C
NM_000094.4:c.8305-20G>C MANE Select	NP_000085.1:n.8305-20G>C