Canonical Allele Identifier: CA2378264

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567885G>A , CM000665.2:g.48567885G>A	GRCh38
NC_000003.11:g.48605318G>A , CM000665.1:g.48605318G>A	GRCh37
NC_000003.10:g.48580322G>A	NCBI36
NG_007065.1:g.32368C>T , LRG_286:g.32368C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7882C>T MANE Select	NP_000085.1:p.Arg2628Trp
ENST00000681320.1:c.7882C>T MANE Select	ENSP00000506558.1:p.Arg2628Trp
NM_000094.3:c.7882C>T , LRG_286t1:c.7882C>T	NP_000085.1:p.Arg2628Trp
ENST00000328333.12:c.7882C>T	ENSP00000332371.8:p.Arg2628Trp
ENST00000459756.5:n.705C>T
ENST00000487017.5:n.4521C>T
XM_011533336.1:c.7909C>T	XP_011531638.1:p.Arg2637Trp
XM_011533337.1:c.7882C>T	XP_011531639.1:p.Arg2628Trp
XM_011533338.1:c.7849C>T	XP_011531640.1:p.Arg2617Trp
XM_017005688.1:c.7822C>T	XP_016861177.1:p.Arg2608Trp
XR_001740003.1:n.7918C>T
XR_001740004.1:n.7918C>T
XR_001740005.1:n.7918C>T
XR_940369.1:n.7945C>T
XR_940370.1:n.7945C>T
XR_940371.1:n.7945C>T