Canonical Allele Identifier: CA352645747

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 488686
• ClinVar RCV Id: RCV000578789
• dbSNP Id: rs1553851245
• gnomAD v3: 3-48570157-G-A
• gnomAD v4: 3-48570157-G-A
• MyVariant Identifiers: chr3:g.48607590G>A (hg19) ; chr3:g.48570157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570157G>A , CM000665.2:g.48570157G>A	GRCh38
NC_000003.11:g.48607590G>A , CM000665.1:g.48607590G>A	GRCh37
NC_000003.10:g.48582594G>A	NCBI36
NG_007065.1:g.30096C>T , LRG_286:g.30096C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7462C>T MANE Select	ENSP00000506558.1:p.Gln2488Ter
ENST00000328333.12:c.7462C>T	ENSP00000332371.8:p.Gln2488Ter
ENST00000422991.1:c.457C>T	ENSP00000391608.1:p.Gln153Ter
ENST00000459756.5:n.285C>T
ENST00000467985.1:n.308C>T
ENST00000487017.5:n.4101C>T
NM_000094.3:c.7462C>T , LRG_286t1:c.7462C>T	NP_000085.1:p.Gln2488Ter
XM_011533336.1:c.7489C>T	XP_011531638.1:p.Gln2497Ter
XM_011533337.1:c.7462C>T	XP_011531639.1:p.Gln2488Ter
XM_011533338.1:c.7429C>T	XP_011531640.1:p.Gln2477Ter
XM_011533339.1:c.7489C>T	XP_011531641.1:p.Gln2497Ter
XM_011533342.1:c.*17C>T	XP_011531644.1:n.*17C>T
XR_940369.1:n.7525C>T
XR_940370.1:n.7525C>T
XR_940371.1:n.7525C>T
XR_940372.1:n.7499C>T
XM_017005688.1:c.7402C>T	XP_016861177.1:p.Gln2468Ter
XM_017005689.1:c.7462C>T	XP_016861178.1:p.Gln2488Ter
XM_017005692.1:c.*17C>T	XP_016861181.1:n.*17C>T
XR_001740003.1:n.7498C>T
XR_001740004.1:n.7498C>T
XR_001740005.1:n.7498C>T
XR_001740006.1:n.7472C>T
NM_000094.4:c.7462C>T MANE Select	NP_000085.1:p.Gln2488Ter