Canonical Allele Identifier: CA352641229

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2203636
• ClinVar RCV Id: RCV002651900
• gnomAD v4: 3-48567715-C-G
• MyVariant Identifiers: chr3:g.48605148C>G (hg19) ; chr3:g.48567715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567715C>G , CM000665.2:g.48567715C>G	GRCh38
NC_000003.11:g.48605148C>G , CM000665.1:g.48605148C>G	GRCh37
NC_000003.10:g.48580152C>G	NCBI36
NG_007065.1:g.32538G>C , LRG_286:g.32538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7978G>C MANE Select	ENSP00000506558.1:p.Glu2660Gln
ENST00000328333.12:c.7978G>C	ENSP00000332371.8:p.Glu2660Gln
ENST00000459756.5:n.801G>C
ENST00000487017.5:n.4617G>C
NM_000094.3:c.7978G>C , LRG_286t1:c.7978G>C	NP_000085.1:p.Glu2660Gln
XM_011533336.1:c.8005G>C	XP_011531638.1:p.Glu2669Gln
XM_011533337.1:c.7978G>C	XP_011531639.1:p.Glu2660Gln
XM_011533338.1:c.7945G>C	XP_011531640.1:p.Glu2649Gln
XR_940369.1:n.8041G>C
XR_940370.1:n.8041G>C
XR_940371.1:n.8041G>C
XM_017005688.1:c.7918G>C	XP_016861177.1:p.Glu2640Gln
XR_001740003.1:n.8014G>C
XR_001740004.1:n.8014G>C
XR_001740005.1:n.8014G>C
NM_000094.4:c.7978G>C MANE Select	NP_000085.1:p.Glu2660Gln