Canonical Allele Identifier: CA433532836

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567737-G-T
• MyVariant Identifiers: chr3:g.48605170G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567737G>T , CM000665.2:g.48567737G>T	GRCh38
NC_000003.11:g.48605170G>T , CM000665.1:g.48605170G>T	GRCh37
NC_000003.10:g.48580174G>T	NCBI36
NG_007065.1:g.32516C>A , LRG_286:g.32516C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7956C>A MANE Select	ENSP00000506558.1:p.Pro2652=
ENST00000328333.12:c.7956C>A	ENSP00000332371.8:p.Pro2652=
ENST00000459756.5:n.779C>A
ENST00000487017.5:n.4595C>A
NM_000094.3:c.7956C>A , LRG_286t1:c.7956C>A	NP_000085.1:p.Pro2652=
XM_011533336.1:c.7983C>A	XP_011531638.1:p.Pro2661=
XM_011533337.1:c.7956C>A	XP_011531639.1:p.Pro2652=
XM_011533338.1:c.7923C>A	XP_011531640.1:p.Pro2641=
XR_940369.1:n.8019C>A
XR_940370.1:n.8019C>A
XR_940371.1:n.8019C>A
XM_017005688.1:c.7896C>A	XP_016861177.1:p.Pro2632=
XR_001740003.1:n.7992C>A
XR_001740004.1:n.7992C>A
XR_001740005.1:n.7992C>A
NM_000094.4:c.7956C>A MANE Select	NP_000085.1:p.Pro2652=