Canonical Allele Identifier: CA2378249

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2176295
• ClinVar RCV Id: RCV002610153
• dbSNP Id: rs373279464
• ExAC: 3:48605245 C / G
• gnomAD v2: 3-48605245-C-G
• gnomAD v3: 3-48567812-C-G
• gnomAD v4: 3-48567812-C-G
• MyVariant Identifiers: chr3:g.48605245C>G (hg19) ; chr3:g.48567812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567812C>G , CM000665.2:g.48567812C>G	GRCh38
NC_000003.11:g.48605245C>G , CM000665.1:g.48605245C>G	GRCh37
NC_000003.10:g.48580249C>G	NCBI36
NG_007065.1:g.32441G>C , LRG_286:g.32441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+26G>C MANE Select	ENSP00000506558.1:n.7929+26G>C
ENST00000328333.12:c.7929+26G>C	ENSP00000332371.8:n.7929+26G>C
ENST00000459756.5:n.752+26G>C
ENST00000487017.5:n.4568+26G>C
NM_000094.3:c.7929+26G>C , LRG_286t1:c.7929+26G>C	NP_000085.1:n.7929+26G>C
XM_011533336.1:c.7956+26G>C	XP_011531638.1:n.7956+26G>C
XM_011533337.1:c.7929+26G>C	XP_011531639.1:n.7929+26G>C
XM_011533338.1:c.7896+26G>C	XP_011531640.1:n.7896+26G>C
XR_940369.1:n.7992+26G>C
XR_940370.1:n.7992+26G>C
XR_940371.1:n.7992+26G>C
XM_017005688.1:c.7869+26G>C	XP_016861177.1:n.7869+26G>C
XR_001740003.1:n.7965+26G>C
XR_001740004.1:n.7965+26G>C
XR_001740005.1:n.7965+26G>C
NM_000094.4:c.7929+26G>C MANE Select	NP_000085.1:n.7929+26G>C