Canonical Allele Identifier: CA352643382

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568850-G-T
• MyVariant Identifiers: chr3:g.48606283G>T (hg19) ; chr3:g.48568850G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7692C>A MANE Select	ENSP00000506558.1:p.Ser2564Arg
ENST00000328333.12:c.7692C>A	ENSP00000332371.8:p.Ser2564Arg
ENST00000459756.5:n.515C>A
ENST00000467985.1:n.538C>A
ENST00000487017.5:n.4331C>A
NM_000094.3:c.7692C>A , LRG_286t1:c.7692C>A	NP_000085.1:p.Ser2564Arg
XM_011533336.1:c.7719C>A	XP_011531638.1:p.Ser2573Arg
XM_011533337.1:c.7692C>A	XP_011531639.1:p.Ser2564Arg
XM_011533338.1:c.7659C>A	XP_011531640.1:p.Ser2553Arg
XM_011533339.1:c.7719C>A	XP_011531641.1:p.Ser2573Arg
XR_940369.1:n.7755C>A
XR_940370.1:n.7755C>A
XR_940371.1:n.7755C>A
XR_940372.1:n.7729C>A
XM_017005688.1:c.7632C>A	XP_016861177.1:p.Ser2544Arg
XM_017005689.1:c.7692C>A	XP_016861178.1:p.Ser2564Arg
XR_001740003.1:n.7728C>A
XR_001740004.1:n.7728C>A
XR_001740005.1:n.7728C>A
XR_001740006.1:n.7702C>A
NM_000094.4:c.7692C>A MANE Select	NP_000085.1:p.Ser2564Arg