Canonical Allele Identifier: CA2665617634

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566748-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566748C>G , CM000665.2:g.48566748C>G	GRCh38
NC_000003.11:g.48604181C>G , CM000665.1:g.48604181C>G	GRCh37
NC_000003.10:g.48579185C>G	NCBI36
NG_007065.1:g.33505G>C , LRG_286:g.33505G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8227-11G>C MANE Select	ENSP00000506558.1:n.8227-11G>C
ENST00000328333.12:c.8227-11G>C	ENSP00000332371.8:n.8227-11G>C
ENST00000474432.1:n.616G>C
ENST00000487017.5:n.4866-11G>C
NM_000094.3:c.8227-11G>C , LRG_286t1:c.8227-11G>C	NP_000085.1:n.8227-11G>C
XM_011533336.1:c.8254-11G>C	XP_011531638.1:n.8254-11G>C
XM_011533337.1:c.8227-11G>C	XP_011531639.1:n.8227-11G>C
XM_011533338.1:c.8194-11G>C	XP_011531640.1:n.8194-11G>C
XR_940369.1:n.8290-11G>C
XR_940370.1:n.8290-11G>C
XR_940371.1:n.8290-11G>C
XM_017005688.1:c.8167-11G>C	XP_016861177.1:n.8167-11G>C
XR_001740003.1:n.8263-11G>C
XR_001740004.1:n.8263-11G>C
XR_001740005.1:n.8263-11G>C
NM_000094.4:c.8227-11G>C MANE Select	NP_000085.1:n.8227-11G>C