Canonical Allele Identifier: CA352642801

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568786-G-T
• MyVariant Identifiers: chr3:g.48606219G>T (hg19) ; chr3:g.48568786G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568786G>T , CM000665.2:g.48568786G>T	GRCh38
NC_000003.11:g.48606219G>T , CM000665.1:g.48606219G>T	GRCh37
NC_000003.10:g.48581223G>T	NCBI36
NG_007065.1:g.31467C>A , LRG_286:g.31467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7756C>A MANE Select	ENSP00000506558.1:p.Gln2586Lys
ENST00000328333.12:c.7756C>A	ENSP00000332371.8:p.Gln2586Lys
ENST00000459756.5:n.579C>A
ENST00000467985.1:n.602C>A
ENST00000487017.5:n.4395C>A
NM_000094.3:c.7756C>A , LRG_286t1:c.7756C>A	NP_000085.1:p.Gln2586Lys
XM_011533336.1:c.7783C>A	XP_011531638.1:p.Gln2595Lys
XM_011533337.1:c.7756C>A	XP_011531639.1:p.Gln2586Lys
XM_011533338.1:c.7723C>A	XP_011531640.1:p.Gln2575Lys
XM_011533339.1:c.7783C>A	XP_011531641.1:p.Gln2595Lys
XR_940369.1:n.7819C>A
XR_940370.1:n.7819C>A
XR_940371.1:n.7819C>A
XR_940372.1:n.7793C>A
XM_017005688.1:c.7696C>A	XP_016861177.1:p.Gln2566Lys
XM_017005689.1:c.7756C>A	XP_016861178.1:p.Gln2586Lys
XR_001740003.1:n.7792C>A
XR_001740004.1:n.7792C>A
XR_001740005.1:n.7792C>A
XR_001740006.1:n.7766C>A
NM_000094.4:c.7756C>A MANE Select	NP_000085.1:p.Gln2586Lys