Canonical Allele Identifier: CA352638752

Gene: COL7A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566686C>G , CM000665.2:g.48566686C>G	GRCh38
NC_000003.11:g.48604119C>G , CM000665.1:g.48604119C>G	GRCh37
NC_000003.10:g.48579123C>G	NCBI36
NG_007065.1:g.33567G>C , LRG_286:g.33567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8278G>C MANE Select	ENSP00000506558.1:p.Gly2760Arg
ENST00000328333.12:c.8278G>C	ENSP00000332371.8:p.Gly2760Arg
ENST00000474432.1:n.678G>C
ENST00000487017.5:n.4917G>C
NM_000094.3:c.8278G>C , LRG_286t1:c.8278G>C	NP_000085.1:p.Gly2760Arg
XM_011533336.1:c.8305G>C	XP_011531638.1:p.Gly2769Arg
XM_011533337.1:c.8278G>C	XP_011531639.1:p.Gly2760Arg
XM_011533338.1:c.8245G>C	XP_011531640.1:p.Gly2749Arg
XR_940369.1:n.8341G>C
XR_940370.1:n.8341G>C
XR_940371.1:n.8341G>C
XM_017005688.1:c.8218G>C	XP_016861177.1:p.Gly2740Arg
XR_001740003.1:n.8314G>C
XR_001740004.1:n.8314G>C
XR_001740005.1:n.8314G>C
NM_000094.4:c.8278G>C MANE Select	NP_000085.1:p.Gly2760Arg