Canonical Allele Identifier: CA433533382

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2001561
• ClinVar RCV Id: RCV002832767
• gnomAD v4: 3-48568850-G-A
• MyVariant Identifiers: chr3:g.48606283G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568850G>A , CM000665.2:g.48568850G>A	GRCh38
NC_000003.11:g.48606283G>A , CM000665.1:g.48606283G>A	GRCh37
NC_000003.10:g.48581287G>A	NCBI36
NG_007065.1:g.31403C>T , LRG_286:g.31403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7692C>T MANE Select	ENSP00000506558.1:p.Ser2564=
ENST00000328333.12:c.7692C>T	ENSP00000332371.8:p.Ser2564=
ENST00000459756.5:n.515C>T
ENST00000467985.1:n.538C>T
ENST00000487017.5:n.4331C>T
NM_000094.3:c.7692C>T , LRG_286t1:c.7692C>T	NP_000085.1:p.Ser2564=
XM_011533336.1:c.7719C>T	XP_011531638.1:p.Ser2573=
XM_011533337.1:c.7692C>T	XP_011531639.1:p.Ser2564=
XM_011533338.1:c.7659C>T	XP_011531640.1:p.Ser2553=
XM_011533339.1:c.7719C>T	XP_011531641.1:p.Ser2573=
XR_940369.1:n.7755C>T
XR_940370.1:n.7755C>T
XR_940371.1:n.7755C>T
XR_940372.1:n.7729C>T
XM_017005688.1:c.7632C>T	XP_016861177.1:p.Ser2544=
XM_017005689.1:c.7692C>T	XP_016861178.1:p.Ser2564=
XR_001740003.1:n.7728C>T
XR_001740004.1:n.7728C>T
XR_001740005.1:n.7728C>T
XR_001740006.1:n.7702C>T
NM_000094.4:c.7692C>T MANE Select	NP_000085.1:p.Ser2564=