Canonical Allele Identifier: CA543045189

Gene: COL7A1

Linked Data

• dbSNP Id: rs1370283919
• gnomAD v2: 3-48604208-C-T
• MyVariant Identifiers: chr3:g.48604208C>T (hg19) ; chr3:g.48566775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566775C>T , CM000665.2:g.48566775C>T	GRCh38
NC_000003.11:g.48604208C>T , CM000665.1:g.48604208C>T	GRCh37
NC_000003.10:g.48579212C>T	NCBI36
NG_007065.1:g.33478G>A , LRG_286:g.33478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8227-38G>A MANE Select	ENSP00000506558.1:n.8227-38G>A
ENST00000328333.12:c.8227-38G>A	ENSP00000332371.8:n.8227-38G>A
ENST00000474432.1:n.589G>A
ENST00000487017.5:n.4866-38G>A
NM_000094.3:c.8227-38G>A , LRG_286t1:c.8227-38G>A	NP_000085.1:n.8227-38G>A
XM_011533336.1:c.8254-38G>A	XP_011531638.1:n.8254-38G>A
XM_011533337.1:c.8227-38G>A	XP_011531639.1:n.8227-38G>A
XM_011533338.1:c.8194-38G>A	XP_011531640.1:n.8194-38G>A
XR_940369.1:n.8290-38G>A
XR_940370.1:n.8290-38G>A
XR_940371.1:n.8290-38G>A
XM_017005688.1:c.8167-38G>A	XP_016861177.1:n.8167-38G>A
XR_001740003.1:n.8263-38G>A
XR_001740004.1:n.8263-38G>A
XR_001740005.1:n.8263-38G>A
NM_000094.4:c.8227-38G>A MANE Select	NP_000085.1:n.8227-38G>A