Canonical Allele Identifier: CA352634093

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565160C>A , CM000665.2:g.48565160C>A	GRCh38
NC_000003.11:g.48602593C>A , CM000665.1:g.48602593C>A	GRCh37
NC_000003.10:g.48577597C>A	NCBI36
NG_007065.1:g.35093G>T , LRG_286:g.35093G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8569G>T MANE Select	NP_000085.1:p.Glu2857Ter
ENST00000681320.1:c.8569G>T MANE Select	ENSP00000506558.1:p.Glu2857Ter
NM_000094.3:c.8569G>T , LRG_286t1:c.8569G>T	NP_000085.1:p.Glu2857Ter
ENST00000328333.12:c.8569G>T	ENSP00000332371.8:p.Glu2857Ter
ENST00000466591.1:n.180G>T
ENST00000487017.5:n.5208G>T
XM_011533336.1:c.8596G>T	XP_011531638.1:p.Glu2866Ter
XM_011533337.1:c.8569G>T	XP_011531639.1:p.Glu2857Ter
XM_011533338.1:c.8536G>T	XP_011531640.1:p.Glu2846Ter
XM_017005688.1:c.8509G>T	XP_016861177.1:p.Glu2837Ter
XR_001740003.1:n.8678G>T
XR_001740004.1:n.8642G>T
XR_001740005.1:n.8639G>T
XR_940369.1:n.8705G>T
XR_940370.1:n.8669G>T
XR_940371.1:n.8666G>T