Canonical Allele Identifier: CA352643235

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568836-C-A
• MyVariant Identifiers: chr3:g.48606269C>A (hg19) ; chr3:g.48568836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568836C>A , CM000665.2:g.48568836C>A	GRCh38
NC_000003.11:g.48606269C>A , CM000665.1:g.48606269C>A	GRCh37
NC_000003.10:g.48581273C>A	NCBI36
NG_007065.1:g.31417G>T , LRG_286:g.31417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7706G>T MANE Select	ENSP00000506558.1:p.Gly2569Val
ENST00000328333.12:c.7706G>T	ENSP00000332371.8:p.Gly2569Val
ENST00000459756.5:n.529G>T
ENST00000467985.1:n.552G>T
ENST00000487017.5:n.4345G>T
NM_000094.3:c.7706G>T , LRG_286t1:c.7706G>T	NP_000085.1:p.Gly2569Val
XM_011533336.1:c.7733G>T	XP_011531638.1:p.Gly2578Val
XM_011533337.1:c.7706G>T	XP_011531639.1:p.Gly2569Val
XM_011533338.1:c.7673G>T	XP_011531640.1:p.Gly2558Val
XM_011533339.1:c.7733G>T	XP_011531641.1:p.Gly2578Val
XR_940369.1:n.7769G>T
XR_940370.1:n.7769G>T
XR_940371.1:n.7769G>T
XR_940372.1:n.7743G>T
XM_017005688.1:c.7646G>T	XP_016861177.1:p.Gly2549Val
XM_017005689.1:c.7706G>T	XP_016861178.1:p.Gly2569Val
XR_001740003.1:n.7742G>T
XR_001740004.1:n.7742G>T
XR_001740005.1:n.7742G>T
XR_001740006.1:n.7716G>T
NM_000094.4:c.7706G>T MANE Select	NP_000085.1:p.Gly2569Val