Canonical Allele Identifier: CA352642220

Gene: COL7A1

Linked Data

• dbSNP Id: rs1365103301
• gnomAD v2: 3-48605952-C-T
• gnomAD v3: 3-48568519-C-T
• gnomAD v4: 3-48568519-C-T
• COSMIC: COSM115708
• MyVariant Identifiers: chr3:g.48605952C>T (hg19) ; chr3:g.48568519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568519C>T , CM000665.2:g.48568519C>T	GRCh38
NC_000003.11:g.48605952C>T , CM000665.1:g.48605952C>T	GRCh37
NC_000003.10:g.48580956C>T	NCBI36
NG_007065.1:g.31734G>A , LRG_286:g.31734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7774G>A MANE Select	ENSP00000506558.1:p.Ala2592Thr
ENST00000328333.12:c.7774G>A	ENSP00000332371.8:p.Ala2592Thr
ENST00000459756.5:n.597G>A
ENST00000467985.1:n.620G>A
ENST00000487017.5:n.4413G>A
NM_000094.3:c.7774G>A , LRG_286t1:c.7774G>A	NP_000085.1:p.Ala2592Thr
XM_011533336.1:c.7801G>A	XP_011531638.1:p.Ala2601Thr
XM_011533337.1:c.7774G>A	XP_011531639.1:p.Ala2592Thr
XM_011533338.1:c.7741G>A	XP_011531640.1:p.Ala2581Thr
XM_011533339.1:c.7801G>A	XP_011531641.1:p.Ala2601Thr
XR_940369.1:n.7837G>A
XR_940370.1:n.7837G>A
XR_940371.1:n.7837G>A
XR_940372.1:n.7811G>A
XM_017005688.1:c.7714G>A	XP_016861177.1:p.Ala2572Thr
XM_017005689.1:c.7774G>A	XP_016861178.1:p.Ala2592Thr
XR_001740003.1:n.7810G>A
XR_001740004.1:n.7810G>A
XR_001740005.1:n.7810G>A
XR_001740006.1:n.7784G>A
NM_000094.4:c.7774G>A MANE Select	NP_000085.1:p.Ala2592Thr