Canonical Allele Identifier: CA433531408

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564916C>A , CM000665.2:g.48564916C>A	GRCh38
NC_000003.11:g.48602349C>A , CM000665.1:g.48602349C>A	GRCh37
NC_000003.10:g.48577353C>A	NCBI36
NG_007065.1:g.35337G>T , LRG_286:g.35337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8685G>T MANE Select	ENSP00000506558.1:p.Arg2895=
ENST00000328333.12:c.8685G>T	ENSP00000332371.8:p.Arg2895=
ENST00000465238.5:n.104G>T
ENST00000466591.1:n.296G>T
ENST00000470076.1:n.77G>T
ENST00000487017.5:n.5324G>T
NM_000094.3:c.8685G>T , LRG_286t1:c.8685G>T	NP_000085.1:p.Arg2895=
XM_011533336.1:c.8712G>T	XP_011531638.1:p.Arg2904=
XM_011533337.1:c.8685G>T	XP_011531639.1:p.Arg2895=
XM_011533338.1:c.8652G>T	XP_011531640.1:p.Arg2884=
XR_940369.1:n.8821G>T
XR_940370.1:n.8785G>T
XR_940371.1:n.8782G>T
XM_017005688.1:c.8625G>T	XP_016861177.1:p.Arg2875=
XR_001740003.1:n.8794G>T
XR_001740004.1:n.8758G>T
XR_001740005.1:n.8755G>T
NM_000094.4:c.8685G>T MANE Select	NP_000085.1:p.Arg2895=