Canonical Allele Identifier: CA352632530

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564804C>G , CM000665.2:g.48564804C>G	GRCh38
NC_000003.11:g.48602237C>G , CM000665.1:g.48602237C>G	GRCh37
NC_000003.10:g.48577241C>G	NCBI36
NG_007065.1:g.35449G>C , LRG_286:g.35449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8797G>C MANE Select	ENSP00000506558.1:p.Val2933Leu
ENST00000328333.12:c.8797G>C	ENSP00000332371.8:p.Val2933Leu
ENST00000465238.5:n.216G>C
ENST00000466591.1:n.408G>C
ENST00000470076.1:n.189G>C
ENST00000487017.5:n.5436G>C
NM_000094.3:c.8797G>C , LRG_286t1:c.8797G>C	NP_000085.1:p.Val2933Leu
XM_011533336.1:c.8824G>C	XP_011531638.1:p.Val2942Leu
XM_011533337.1:c.8797G>C	XP_011531639.1:p.Val2933Leu
XM_011533338.1:c.8764G>C	XP_011531640.1:p.Val2922Leu
XR_940369.1:n.8933G>C
XR_940370.1:n.8897G>C
XR_940371.1:n.8894G>C
XM_017005688.1:c.8737G>C	XP_016861177.1:p.Val2913Leu
XR_001740003.1:n.8906G>C
XR_001740004.1:n.8870G>C
XR_001740005.1:n.8867G>C
NM_000094.4:c.8797G>C MANE Select	NP_000085.1:p.Val2933Leu