Canonical Allele Identifier: CA1047677023

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043809635
• gnomAD v3: 3-48570017-C-T
• gnomAD v4: 3-48570017-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570017C>T , CM000665.2:g.48570017C>T	GRCh38
NC_000003.11:g.48607450C>T , CM000665.1:g.48607450C>T	GRCh37
NC_000003.10:g.48582454C>T	NCBI36
NG_007065.1:g.30236G>A , LRG_286:g.30236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7486-102G>A MANE Select	ENSP00000506558.1:n.7486-102G>A
ENST00000328333.12:c.7486-102G>A	ENSP00000332371.8:n.7486-102G>A
ENST00000422991.1:c.481-102G>A	ENSP00000391608.1:n.481-102G>A
ENST00000459756.5:n.309-102G>A
ENST00000467985.1:n.332-102G>A
ENST00000487017.5:n.4125-102G>A
NM_000094.3:c.7486-102G>A , LRG_286t1:c.7486-102G>A	NP_000085.1:n.7486-102G>A
XM_011533336.1:c.7513-102G>A	XP_011531638.1:n.7513-102G>A
XM_011533337.1:c.7486-102G>A	XP_011531639.1:n.7486-102G>A
XM_011533338.1:c.7453-102G>A	XP_011531640.1:n.7453-102G>A
XM_011533339.1:c.7513-102G>A	XP_011531641.1:n.7513-102G>A
XM_011533342.1:c.*41-102G>A	XP_011531644.1:n.*41-102G>A
XR_940369.1:n.7549-102G>A
XR_940370.1:n.7549-102G>A
XR_940371.1:n.7549-102G>A
XR_940372.1:n.7523-102G>A
XM_017005688.1:c.7426-102G>A	XP_016861177.1:n.7426-102G>A
XM_017005689.1:c.7486-102G>A	XP_016861178.1:n.7486-102G>A
XM_017005692.1:c.*41-102G>A	XP_016861181.1:n.*41-102G>A
XR_001740003.1:n.7522-102G>A
XR_001740004.1:n.7522-102G>A
XR_001740005.1:n.7522-102G>A
XR_001740006.1:n.7496-102G>A
NM_000094.4:c.7486-102G>A MANE Select	NP_000085.1:n.7486-102G>A