Canonical Allele Identifier: CA433532839

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605173G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567740G>A , CM000665.2:g.48567740G>A	GRCh38
NC_000003.11:g.48605173G>A , CM000665.1:g.48605173G>A	GRCh37
NC_000003.10:g.48580177G>A	NCBI36
NG_007065.1:g.32513C>T , LRG_286:g.32513C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7953C>T MANE Select	ENSP00000506558.1:p.Arg2651=
ENST00000328333.12:c.7953C>T	ENSP00000332371.8:p.Arg2651=
ENST00000459756.5:n.776C>T
ENST00000487017.5:n.4592C>T
NM_000094.3:c.7953C>T , LRG_286t1:c.7953C>T	NP_000085.1:p.Arg2651=
XM_011533336.1:c.7980C>T	XP_011531638.1:p.Arg2660=
XM_011533337.1:c.7953C>T	XP_011531639.1:p.Arg2651=
XM_011533338.1:c.7920C>T	XP_011531640.1:p.Arg2640=
XR_940369.1:n.8016C>T
XR_940370.1:n.8016C>T
XR_940371.1:n.8016C>T
XM_017005688.1:c.7893C>T	XP_016861177.1:p.Arg2631=
XR_001740003.1:n.7989C>T
XR_001740004.1:n.7989C>T
XR_001740005.1:n.7989C>T
NM_000094.4:c.7953C>T MANE Select	NP_000085.1:p.Arg2651=