Canonical Allele Identifier: CA352643401

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568852-T-A
• MyVariant Identifiers: chr3:g.48606285T>A (hg19) ; chr3:g.48568852T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568852T>A , CM000665.2:g.48568852T>A	GRCh38
NC_000003.11:g.48606285T>A , CM000665.1:g.48606285T>A	GRCh37
NC_000003.10:g.48581289T>A	NCBI36
NG_007065.1:g.31401A>T , LRG_286:g.31401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7690A>T MANE Select	ENSP00000506558.1:p.Ser2564Cys
ENST00000328333.12:c.7690A>T	ENSP00000332371.8:p.Ser2564Cys
ENST00000459756.5:n.513A>T
ENST00000467985.1:n.536A>T
ENST00000487017.5:n.4329A>T
NM_000094.3:c.7690A>T , LRG_286t1:c.7690A>T	NP_000085.1:p.Ser2564Cys
XM_011533336.1:c.7717A>T	XP_011531638.1:p.Ser2573Cys
XM_011533337.1:c.7690A>T	XP_011531639.1:p.Ser2564Cys
XM_011533338.1:c.7657A>T	XP_011531640.1:p.Ser2553Cys
XM_011533339.1:c.7717A>T	XP_011531641.1:p.Ser2573Cys
XR_940369.1:n.7753A>T
XR_940370.1:n.7753A>T
XR_940371.1:n.7753A>T
XR_940372.1:n.7727A>T
XM_017005688.1:c.7630A>T	XP_016861177.1:p.Ser2544Cys
XM_017005689.1:c.7690A>T	XP_016861178.1:p.Ser2564Cys
XR_001740003.1:n.7726A>T
XR_001740004.1:n.7726A>T
XR_001740005.1:n.7726A>T
XR_001740006.1:n.7700A>T
NM_000094.4:c.7690A>T MANE Select	NP_000085.1:p.Ser2564Cys