Canonical Allele Identifier: CA2378104

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566719C>A , CM000665.2:g.48566719C>A	GRCh38
NC_000003.11:g.48604152C>A , CM000665.1:g.48604152C>A	GRCh37
NC_000003.10:g.48579156C>A	NCBI36
NG_007065.1:g.33534G>T , LRG_286:g.33534G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8245G>T MANE Select	NP_000085.1:p.Gly2749Ter
ENST00000681320.1:c.8245G>T MANE Select	ENSP00000506558.1:p.Gly2749Ter
NM_000094.3:c.8245G>T , LRG_286t1:c.8245G>T	NP_000085.1:p.Gly2749Ter
ENST00000328333.12:c.8245G>T	ENSP00000332371.8:p.Gly2749Ter
ENST00000474432.1:n.645G>T
ENST00000487017.5:n.4884G>T
XM_011533336.1:c.8272G>T	XP_011531638.1:p.Gly2758Ter
XM_011533337.1:c.8245G>T	XP_011531639.1:p.Gly2749Ter
XM_011533338.1:c.8212G>T	XP_011531640.1:p.Gly2738Ter
XM_017005688.1:c.8185G>T	XP_016861177.1:p.Gly2729Ter
XR_001740003.1:n.8281G>T
XR_001740004.1:n.8281G>T
XR_001740005.1:n.8281G>T
XR_940369.1:n.8308G>T
XR_940370.1:n.8308G>T
XR_940371.1:n.8308G>T