Canonical Allele Identifier: CA73974222

Gene: COL7A1

Linked Data

• dbSNP Id: rs1040213326
• gnomAD v2: 3-48607808-A-G
• gnomAD v3: 3-48570375-A-G
• gnomAD v4: 3-48570375-A-G
• MyVariant Identifiers: chr3:g.48607808A>G (hg19) ; chr3:g.48570375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570375A>G , CM000665.2:g.48570375A>G	GRCh38
NC_000003.11:g.48607808A>G , CM000665.1:g.48607808A>G	GRCh37
NC_000003.10:g.48582812A>G	NCBI36
NG_007065.1:g.29878T>C , LRG_286:g.29878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7381-41T>C MANE Select	ENSP00000506558.1:n.7381-41T>C
ENST00000328333.12:c.7381-41T>C	ENSP00000332371.8:n.7381-41T>C
ENST00000422991.1:c.376-41T>C	ENSP00000391608.1:n.376-41T>C
ENST00000459756.5:n.67T>C
ENST00000467985.1:n.131-41T>C
ENST00000487017.5:n.4020-41T>C
NM_000094.3:c.7381-41T>C , LRG_286t1:c.7381-41T>C	NP_000085.1:n.7381-41T>C
XM_011533336.1:c.7408-41T>C	XP_011531638.1:n.7408-41T>C
XM_011533337.1:c.7381-41T>C	XP_011531639.1:n.7381-41T>C
XM_011533338.1:c.7407+90T>C	XP_011531640.1:n.7407+90T>C
XM_011533339.1:c.7408-41T>C	XP_011531641.1:n.7408-41T>C
XM_011533340.1:c.7407+90T>C	XP_011531642.1:n.7407+90T>C
XM_011533341.1:c.7381+90T>C	XP_011531643.1:n.7381+90T>C
XM_011533342.1:c.7381+90T>C	XP_011531644.1:n.7381+90T>C
XR_940369.1:n.7444-41T>C
XR_940370.1:n.7444-41T>C
XR_940371.1:n.7444-41T>C
XR_940372.1:n.7418-41T>C
XM_017005688.1:c.7380+90T>C	XP_016861177.1:n.7380+90T>C
XM_017005689.1:c.7381-41T>C	XP_016861178.1:n.7381-41T>C
XM_017005690.1:c.7380+90T>C	XP_016861179.1:n.7380+90T>C
XM_017005691.1:c.7354+90T>C	XP_016861180.1:n.7354+90T>C
XM_017005692.1:c.7354+90T>C	XP_016861181.1:n.7354+90T>C
XR_001740003.1:n.7417-41T>C
XR_001740004.1:n.7417-41T>C
XR_001740005.1:n.7417-41T>C
XR_001740006.1:n.7391-41T>C
NM_000094.4:c.7381-41T>C MANE Select	NP_000085.1:n.7381-41T>C