Canonical Allele Identifier: CA433531280

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564856A>G , CM000665.2:g.48564856A>G	GRCh38
NC_000003.11:g.48602289A>G , CM000665.1:g.48602289A>G	GRCh37
NC_000003.10:g.48577293A>G	NCBI36
NG_007065.1:g.35397T>C , LRG_286:g.35397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8745T>C MANE Select	ENSP00000506558.1:p.Asn2915=
ENST00000328333.12:c.8745T>C	ENSP00000332371.8:p.Asn2915=
ENST00000465238.5:n.164T>C
ENST00000466591.1:n.356T>C
ENST00000470076.1:n.137T>C
ENST00000487017.5:n.5384T>C
NM_000094.3:c.8745T>C , LRG_286t1:c.8745T>C	NP_000085.1:p.Asn2915=
XM_011533336.1:c.8772T>C	XP_011531638.1:p.Asn2924=
XM_011533337.1:c.8745T>C	XP_011531639.1:p.Asn2915=
XM_011533338.1:c.8712T>C	XP_011531640.1:p.Asn2904=
XR_940369.1:n.8881T>C
XR_940370.1:n.8845T>C
XR_940371.1:n.8842T>C
XM_017005688.1:c.8685T>C	XP_016861177.1:p.Asn2895=
XR_001740003.1:n.8854T>C
XR_001740004.1:n.8818T>C
XR_001740005.1:n.8815T>C
NM_000094.4:c.8745T>C MANE Select	NP_000085.1:p.Asn2915=