Canonical Allele Identifier: CA2665618272

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567354-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567354C>G , CM000665.2:g.48567354C>G	GRCh38
NC_000003.11:g.48604787C>G , CM000665.1:g.48604787C>G	GRCh37
NC_000003.10:g.48579791C>G	NCBI36
NG_007065.1:g.32899G>C , LRG_286:g.32899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-164G>C MANE Select	ENSP00000506558.1:n.8047-164G>C
ENST00000328333.12:c.8047-164G>C	ENSP00000332371.8:n.8047-164G>C
ENST00000474432.1:n.10G>C
ENST00000487017.5:n.4686-164G>C
NM_000094.3:c.8047-164G>C , LRG_286t1:c.8047-164G>C	NP_000085.1:n.8047-164G>C
XM_011533336.1:c.8074-164G>C	XP_011531638.1:n.8074-164G>C
XM_011533337.1:c.8047-164G>C	XP_011531639.1:n.8047-164G>C
XM_011533338.1:c.8014-164G>C	XP_011531640.1:n.8014-164G>C
XR_940369.1:n.8110-164G>C
XR_940370.1:n.8110-164G>C
XR_940371.1:n.8110-164G>C
XM_017005688.1:c.7987-164G>C	XP_016861177.1:n.7987-164G>C
XR_001740003.1:n.8083-164G>C
XR_001740004.1:n.8083-164G>C
XR_001740005.1:n.8083-164G>C
NM_000094.4:c.8047-164G>C MANE Select	NP_000085.1:n.8047-164G>C