Canonical Allele Identifier: CA352642924

Gene: COL7A1

Linked Data

• dbSNP Id: rs1348989620
• gnomAD v2: 3-48606236-C-T
• gnomAD v3: 3-48568803-C-T
• gnomAD v4: 3-48568803-C-T
• MyVariant Identifiers: chr3:g.48606236C>T (hg19) ; chr3:g.48568803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568803C>T , CM000665.2:g.48568803C>T	GRCh38
NC_000003.11:g.48606236C>T , CM000665.1:g.48606236C>T	GRCh37
NC_000003.10:g.48581240C>T	NCBI36
NG_007065.1:g.31450G>A , LRG_286:g.31450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7739G>A MANE Select	ENSP00000506558.1:p.Arg2580His
ENST00000328333.12:c.7739G>A	ENSP00000332371.8:p.Arg2580His
ENST00000459756.5:n.562G>A
ENST00000467985.1:n.585G>A
ENST00000487017.5:n.4378G>A
NM_000094.3:c.7739G>A , LRG_286t1:c.7739G>A	NP_000085.1:p.Arg2580His
XM_011533336.1:c.7766G>A	XP_011531638.1:p.Arg2589His
XM_011533337.1:c.7739G>A	XP_011531639.1:p.Arg2580His
XM_011533338.1:c.7706G>A	XP_011531640.1:p.Arg2569His
XM_011533339.1:c.7766G>A	XP_011531641.1:p.Arg2589His
XR_940369.1:n.7802G>A
XR_940370.1:n.7802G>A
XR_940371.1:n.7802G>A
XR_940372.1:n.7776G>A
XM_017005688.1:c.7679G>A	XP_016861177.1:p.Arg2560His
XM_017005689.1:c.7739G>A	XP_016861178.1:p.Arg2580His
XR_001740003.1:n.7775G>A
XR_001740004.1:n.7775G>A
XR_001740005.1:n.7775G>A
XR_001740006.1:n.7749G>A
NM_000094.4:c.7739G>A MANE Select	NP_000085.1:p.Arg2580His