Canonical Allele Identifier: CA1047675334

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043653544
• gnomAD v3: 3-48567374-G-T
• gnomAD v4: 3-48567374-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567374G>T , CM000665.2:g.48567374G>T	GRCh38
NC_000003.11:g.48604807G>T , CM000665.1:g.48604807G>T	GRCh37
NC_000003.10:g.48579811G>T	NCBI36
NG_007065.1:g.32879C>A , LRG_286:g.32879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-184C>A MANE Select	ENSP00000506558.1:n.8047-184C>A
ENST00000328333.12:c.8047-184C>A	ENSP00000332371.8:n.8047-184C>A
ENST00000487017.5:n.4686-184C>A
NM_000094.3:c.8047-184C>A , LRG_286t1:c.8047-184C>A	NP_000085.1:n.8047-184C>A
XM_011533336.1:c.8074-184C>A	XP_011531638.1:n.8074-184C>A
XM_011533337.1:c.8047-184C>A	XP_011531639.1:n.8047-184C>A
XM_011533338.1:c.8014-184C>A	XP_011531640.1:n.8014-184C>A
XR_940369.1:n.8110-184C>A
XR_940370.1:n.8110-184C>A
XR_940371.1:n.8110-184C>A
XM_017005688.1:c.7987-184C>A	XP_016861177.1:n.7987-184C>A
XR_001740003.1:n.8083-184C>A
XR_001740004.1:n.8083-184C>A
XR_001740005.1:n.8083-184C>A
NM_000094.4:c.8047-184C>A MANE Select	NP_000085.1:n.8047-184C>A