Canonical Allele Identifier: CA352641604

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605306C>G (hg19) ; chr3:g.48567873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567873C>G , CM000665.2:g.48567873C>G	GRCh38
NC_000003.11:g.48605306C>G , CM000665.1:g.48605306C>G	GRCh37
NC_000003.10:g.48580310C>G	NCBI36
NG_007065.1:g.32380G>C , LRG_286:g.32380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7894G>C MANE Select	ENSP00000506558.1:p.Gly2632Arg
ENST00000328333.12:c.7894G>C	ENSP00000332371.8:p.Gly2632Arg
ENST00000459756.5:n.717G>C
ENST00000487017.5:n.4533G>C
NM_000094.3:c.7894G>C , LRG_286t1:c.7894G>C	NP_000085.1:p.Gly2632Arg
XM_011533336.1:c.7921G>C	XP_011531638.1:p.Gly2641Arg
XM_011533337.1:c.7894G>C	XP_011531639.1:p.Gly2632Arg
XM_011533338.1:c.7861G>C	XP_011531640.1:p.Gly2621Arg
XR_940369.1:n.7957G>C
XR_940370.1:n.7957G>C
XR_940371.1:n.7957G>C
XM_017005688.1:c.7834G>C	XP_016861177.1:p.Gly2612Arg
XR_001740003.1:n.7930G>C
XR_001740004.1:n.7930G>C
XR_001740005.1:n.7930G>C
NM_000094.4:c.7894G>C MANE Select	NP_000085.1:p.Gly2632Arg