Canonical Allele Identifier: CA2377929

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565117T>C , CM000665.2:g.48565117T>C	GRCh38
NC_000003.11:g.48602550T>C , CM000665.1:g.48602550T>C	GRCh37
NC_000003.10:g.48577554T>C	NCBI36
NG_007065.1:g.35136A>G , LRG_286:g.35136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8612A>G MANE Select	ENSP00000506558.1:p.Asp2871Gly
ENST00000328333.12:c.8612A>G	ENSP00000332371.8:p.Asp2871Gly
ENST00000466591.1:n.223A>G
ENST00000487017.5:n.5251A>G
NM_000094.3:c.8612A>G , LRG_286t1:c.8612A>G	NP_000085.1:p.Asp2871Gly
XM_011533336.1:c.8639A>G	XP_011531638.1:p.Asp2880Gly
XM_011533337.1:c.8612A>G	XP_011531639.1:p.Asp2871Gly
XM_011533338.1:c.8579A>G	XP_011531640.1:p.Asp2860Gly
XR_940369.1:n.8748A>G
XR_940370.1:n.8712A>G
XR_940371.1:n.8709A>G
XM_017005688.1:c.8552A>G	XP_016861177.1:p.Asp2851Gly
XR_001740003.1:n.8721A>G
XR_001740004.1:n.8685A>G
XR_001740005.1:n.8682A>G
NM_000094.4:c.8612A>G MANE Select	NP_000085.1:p.Asp2871Gly