Canonical Allele Identifier: CA352643980

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48569437C>G , CM000665.2:g.48569437C>G	GRCh38
NC_000003.11:g.48606870C>G , CM000665.1:g.48606870C>G	GRCh37
NC_000003.10:g.48581874C>G	NCBI36
NG_007065.1:g.30816G>C , LRG_286:g.30816G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7624G>C MANE Select	NP_000085.1:p.Gly2542Arg
ENST00000681320.1:c.7624G>C MANE Select	ENSP00000506558.1:p.Gly2542Arg
NM_000094.3:c.7624G>C , LRG_286t1:c.7624G>C	NP_000085.1:p.Gly2542Arg
ENST00000328333.12:c.7624G>C	ENSP00000332371.8:p.Gly2542Arg
ENST00000459756.5:n.447G>C
ENST00000467985.1:n.470G>C
ENST00000487017.5:n.4263G>C
XM_011533336.1:c.7651G>C	XP_011531638.1:p.Gly2551Arg
XM_011533337.1:c.7624G>C	XP_011531639.1:p.Gly2542Arg
XM_011533338.1:c.7591G>C	XP_011531640.1:p.Gly2531Arg
XM_011533339.1:c.7651G>C	XP_011531641.1:p.Gly2551Arg
XM_017005688.1:c.7564G>C	XP_016861177.1:p.Gly2522Arg
XM_017005689.1:c.7624G>C	XP_016861178.1:p.Gly2542Arg
XR_001740003.1:n.7660G>C
XR_001740004.1:n.7660G>C
XR_001740005.1:n.7660G>C
XR_001740006.1:n.7634G>C
XR_940369.1:n.7687G>C
XR_940370.1:n.7687G>C
XR_940371.1:n.7687G>C
XR_940372.1:n.7661G>C