Canonical Allele Identifier: CA1363076104

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043673546
• gnomAD v4: 3-48567786-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567786T>C , CM000665.2:g.48567786T>C	GRCh38
NC_000003.11:g.48605219T>C , CM000665.1:g.48605219T>C	GRCh37
NC_000003.10:g.48580223T>C	NCBI36
NG_007065.1:g.32467A>G , LRG_286:g.32467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-23A>G MANE Select	ENSP00000506558.1:n.7930-23A>G
ENST00000328333.12:c.7930-23A>G	ENSP00000332371.8:n.7930-23A>G
ENST00000459756.5:n.753-23A>G
ENST00000487017.5:n.4569-23A>G
NM_000094.3:c.7930-23A>G , LRG_286t1:c.7930-23A>G	NP_000085.1:n.7930-23A>G
XM_011533336.1:c.7957-23A>G	XP_011531638.1:n.7957-23A>G
XM_011533337.1:c.7930-23A>G	XP_011531639.1:n.7930-23A>G
XM_011533338.1:c.7897-23A>G	XP_011531640.1:n.7897-23A>G
XR_940369.1:n.7993-23A>G
XR_940370.1:n.7993-23A>G
XR_940371.1:n.7993-23A>G
XM_017005688.1:c.7870-23A>G	XP_016861177.1:n.7870-23A>G
XR_001740003.1:n.7966-23A>G
XR_001740004.1:n.7966-23A>G
XR_001740005.1:n.7966-23A>G
NM_000094.4:c.7930-23A>G MANE Select	NP_000085.1:n.7930-23A>G