Canonical Allele Identifier: CA352639340

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566914C>G , CM000665.2:g.48566914C>G	GRCh38
NC_000003.11:g.48604347C>G , CM000665.1:g.48604347C>G	GRCh37
NC_000003.10:g.48579351C>G	NCBI36
NG_007065.1:g.33339G>C , LRG_286:g.33339G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8219G>C MANE Select	NP_000085.1:p.Gly2740Ala
ENST00000681320.1:c.8219G>C MANE Select	ENSP00000506558.1:p.Gly2740Ala
NM_000094.3:c.8219G>C , LRG_286t1:c.8219G>C	NP_000085.1:p.Gly2740Ala
ENST00000328333.12:c.8219G>C	ENSP00000332371.8:p.Gly2740Ala
ENST00000474432.1:n.450G>C
ENST00000487017.5:n.4858G>C
XM_011533336.1:c.8246G>C	XP_011531638.1:p.Gly2749Ala
XM_011533337.1:c.8219G>C	XP_011531639.1:p.Gly2740Ala
XM_011533338.1:c.8186G>C	XP_011531640.1:p.Gly2729Ala
XM_017005688.1:c.8159G>C	XP_016861177.1:p.Gly2720Ala
XR_001740003.1:n.8255G>C
XR_001740004.1:n.8255G>C
XR_001740005.1:n.8255G>C
XR_940369.1:n.8282G>C
XR_940370.1:n.8282G>C
XR_940371.1:n.8282G>C