Canonical Allele Identifier: CA2378231

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 728485
• ClinVar RCV Id: RCV000902972
• dbSNP Id: rs368225541
• ExAC: 3:48605170 G / A
• gnomAD v2: 3-48605170-G-A
• gnomAD v3: 3-48567737-G-A
• gnomAD v4: 3-48567737-G-A
• MyVariant Identifiers: chr3:g.48605170G>A (hg19) ; chr3:g.48567737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567737G>A , CM000665.2:g.48567737G>A	GRCh38
NC_000003.11:g.48605170G>A , CM000665.1:g.48605170G>A	GRCh37
NC_000003.10:g.48580174G>A	NCBI36
NG_007065.1:g.32516C>T , LRG_286:g.32516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7956C>T MANE Select	ENSP00000506558.1:p.Pro2652=
ENST00000328333.12:c.7956C>T	ENSP00000332371.8:p.Pro2652=
ENST00000459756.5:n.779C>T
ENST00000487017.5:n.4595C>T
NM_000094.3:c.7956C>T , LRG_286t1:c.7956C>T	NP_000085.1:p.Pro2652=
XM_011533336.1:c.7983C>T	XP_011531638.1:p.Pro2661=
XM_011533337.1:c.7956C>T	XP_011531639.1:p.Pro2652=
XM_011533338.1:c.7923C>T	XP_011531640.1:p.Pro2641=
XR_940369.1:n.8019C>T
XR_940370.1:n.8019C>T
XR_940371.1:n.8019C>T
XM_017005688.1:c.7896C>T	XP_016861177.1:p.Pro2632=
XR_001740003.1:n.7992C>T
XR_001740004.1:n.7992C>T
XR_001740005.1:n.7992C>T
NM_000094.4:c.7956C>T MANE Select	NP_000085.1:p.Pro2652=