Canonical Allele Identifier: CA1047674661

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043604831
• gnomAD v3: 3-48566354-G-A
• gnomAD v4: 3-48566354-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566354G>A , CM000665.2:g.48566354G>A	GRCh38
NC_000003.11:g.48603787G>A , CM000665.1:g.48603787G>A	GRCh37
NC_000003.10:g.48578791G>A	NCBI36
NG_007065.1:g.33899C>T , LRG_286:g.33899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8359-39C>T MANE Select	ENSP00000506558.1:n.8359-39C>T
ENST00000328333.12:c.8359-39C>T	ENSP00000332371.8:n.8359-39C>T
ENST00000487017.5:n.4998-39C>T
NM_000094.3:c.8359-39C>T , LRG_286t1:c.8359-39C>T	NP_000085.1:n.8359-39C>T
XM_011533336.1:c.8386-39C>T	XP_011531638.1:n.8386-39C>T
XM_011533337.1:c.8359-39C>T	XP_011531639.1:n.8359-39C>T
XM_011533338.1:c.8326-39C>T	XP_011531640.1:n.8326-39C>T
XR_940369.1:n.8422-39C>T
XR_940370.1:n.8422-39C>T
XR_940371.1:n.8422-39C>T
XM_017005688.1:c.8299-39C>T	XP_016861177.1:n.8299-39C>T
XR_001740003.1:n.8395-39C>T
XR_001740004.1:n.8395-39C>T
XR_001740005.1:n.8395-39C>T
NM_000094.4:c.8359-39C>T MANE Select	NP_000085.1:n.8359-39C>T