Canonical Allele Identifier: CA433532642

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567583-G-T
• MyVariant Identifiers: chr3:g.48605016G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567583G>T , CM000665.2:g.48567583G>T	GRCh38
NC_000003.11:g.48605016G>T , CM000665.1:g.48605016G>T	GRCh37
NC_000003.10:g.48580020G>T	NCBI36
NG_007065.1:g.32670C>A , LRG_286:g.32670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8037C>A MANE Select	ENSP00000506558.1:p.Ile2679=
ENST00000328333.12:c.8037C>A	ENSP00000332371.8:p.Ile2679=
ENST00000487017.5:n.4676C>A
NM_000094.3:c.8037C>A , LRG_286t1:c.8037C>A	NP_000085.1:p.Ile2679=
XM_011533336.1:c.8064C>A	XP_011531638.1:p.Ile2688=
XM_011533337.1:c.8037C>A	XP_011531639.1:p.Ile2679=
XM_011533338.1:c.8004C>A	XP_011531640.1:p.Ile2668=
XR_940369.1:n.8100C>A
XR_940370.1:n.8100C>A
XR_940371.1:n.8100C>A
XM_017005688.1:c.7977C>A	XP_016861177.1:p.Ile2659=
XR_001740003.1:n.8073C>A
XR_001740004.1:n.8073C>A
XR_001740005.1:n.8073C>A
NM_000094.4:c.8037C>A MANE Select	NP_000085.1:p.Ile2679=