Canonical Allele Identifier: CA2665621551

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570031-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570031G>T , CM000665.2:g.48570031G>T	GRCh38
NC_000003.11:g.48607464G>T , CM000665.1:g.48607464G>T	GRCh37
NC_000003.10:g.48582468G>T	NCBI36
NG_007065.1:g.30222C>A , LRG_286:g.30222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7485+103C>A MANE Select	ENSP00000506558.1:n.7485+103C>A
ENST00000328333.12:c.7485+103C>A	ENSP00000332371.8:n.7485+103C>A
ENST00000422991.1:c.480+103C>A	ENSP00000391608.1:n.480+103C>A
ENST00000459756.5:n.308+103C>A
ENST00000467985.1:n.331+103C>A
ENST00000487017.5:n.4124+103C>A
NM_000094.3:c.7485+103C>A , LRG_286t1:c.7485+103C>A	NP_000085.1:n.7485+103C>A
XM_011533336.1:c.7512+103C>A	XP_011531638.1:n.7512+103C>A
XM_011533337.1:c.7485+103C>A	XP_011531639.1:n.7485+103C>A
XM_011533338.1:c.7452+103C>A	XP_011531640.1:n.7452+103C>A
XM_011533339.1:c.7512+103C>A	XP_011531641.1:n.7512+103C>A
XM_011533342.1:c.*40+103C>A	XP_011531644.1:n.*40+103C>A
XR_940369.1:n.7548+103C>A
XR_940370.1:n.7548+103C>A
XR_940371.1:n.7548+103C>A
XR_940372.1:n.7522+103C>A
XM_017005688.1:c.7425+103C>A	XP_016861177.1:n.7425+103C>A
XM_017005689.1:c.7485+103C>A	XP_016861178.1:n.7485+103C>A
XM_017005692.1:c.*40+103C>A	XP_016861181.1:n.*40+103C>A
XR_001740003.1:n.7521+103C>A
XR_001740004.1:n.7521+103C>A
XR_001740005.1:n.7521+103C>A
XR_001740006.1:n.7495+103C>A
NM_000094.4:c.7485+103C>A MANE Select	NP_000085.1:n.7485+103C>A