Canonical Allele Identifier: CA433533363

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48606268A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568835A>C , CM000665.2:g.48568835A>C	GRCh38
NC_000003.11:g.48606268A>C , CM000665.1:g.48606268A>C	GRCh37
NC_000003.10:g.48581272A>C	NCBI36
NG_007065.1:g.31418T>G , LRG_286:g.31418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7707T>G MANE Select	ENSP00000506558.1:p.Gly2569=
ENST00000328333.12:c.7707T>G	ENSP00000332371.8:p.Gly2569=
ENST00000459756.5:n.530T>G
ENST00000467985.1:n.553T>G
ENST00000487017.5:n.4346T>G
NM_000094.3:c.7707T>G , LRG_286t1:c.7707T>G	NP_000085.1:p.Gly2569=
XM_011533336.1:c.7734T>G	XP_011531638.1:p.Gly2578=
XM_011533337.1:c.7707T>G	XP_011531639.1:p.Gly2569=
XM_011533338.1:c.7674T>G	XP_011531640.1:p.Gly2558=
XM_011533339.1:c.7734T>G	XP_011531641.1:p.Gly2578=
XR_940369.1:n.7770T>G
XR_940370.1:n.7770T>G
XR_940371.1:n.7770T>G
XR_940372.1:n.7744T>G
XM_017005688.1:c.7647T>G	XP_016861177.1:p.Gly2549=
XM_017005689.1:c.7707T>G	XP_016861178.1:p.Gly2569=
XR_001740003.1:n.7743T>G
XR_001740004.1:n.7743T>G
XR_001740005.1:n.7743T>G
XR_001740006.1:n.7717T>G
NM_000094.4:c.7707T>G MANE Select	NP_000085.1:p.Gly2569=