Canonical Allele Identifier: CA2665618188

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567295-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567295T>A , CM000665.2:g.48567295T>A	GRCh38
NC_000003.11:g.48604728T>A , CM000665.1:g.48604728T>A	GRCh37
NC_000003.10:g.48579732T>A	NCBI36
NG_007065.1:g.32958A>T , LRG_286:g.32958A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-105A>T MANE Select	ENSP00000506558.1:n.8047-105A>T
ENST00000328333.12:c.8047-105A>T	ENSP00000332371.8:n.8047-105A>T
ENST00000474432.1:n.69A>T
ENST00000487017.5:n.4686-105A>T
NM_000094.3:c.8047-105A>T , LRG_286t1:c.8047-105A>T	NP_000085.1:n.8047-105A>T
XM_011533336.1:c.8074-105A>T	XP_011531638.1:n.8074-105A>T
XM_011533337.1:c.8047-105A>T	XP_011531639.1:n.8047-105A>T
XM_011533338.1:c.8014-105A>T	XP_011531640.1:n.8014-105A>T
XR_940369.1:n.8110-105A>T
XR_940370.1:n.8110-105A>T
XR_940371.1:n.8110-105A>T
XM_017005688.1:c.7987-105A>T	XP_016861177.1:n.7987-105A>T
XR_001740003.1:n.8083-105A>T
XR_001740004.1:n.8083-105A>T
XR_001740005.1:n.8083-105A>T
NM_000094.4:c.8047-105A>T MANE Select	NP_000085.1:n.8047-105A>T