Canonical Allele Identifier: CA542789367

Gene: COL7A1

Linked Data

• dbSNP Id: rs1161894579
• gnomAD v2: 3-48607525-G-A
• gnomAD v4: 3-48570092-G-A
• MyVariant Identifiers: chr3:g.48607525G>A (hg19) ; chr3:g.48570092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570092G>A , CM000665.2:g.48570092G>A	GRCh38
NC_000003.11:g.48607525G>A , CM000665.1:g.48607525G>A	GRCh37
NC_000003.10:g.48582529G>A	NCBI36
NG_007065.1:g.30161C>T , LRG_286:g.30161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7485+42C>T MANE Select	ENSP00000506558.1:n.7485+42C>T
ENST00000328333.12:c.7485+42C>T	ENSP00000332371.8:n.7485+42C>T
ENST00000422991.1:c.480+42C>T	ENSP00000391608.1:n.480+42C>T
ENST00000459756.5:n.308+42C>T
ENST00000467985.1:n.331+42C>T
ENST00000487017.5:n.4124+42C>T
NM_000094.3:c.7485+42C>T , LRG_286t1:c.7485+42C>T	NP_000085.1:n.7485+42C>T
XM_011533336.1:c.7512+42C>T	XP_011531638.1:n.7512+42C>T
XM_011533337.1:c.7485+42C>T	XP_011531639.1:n.7485+42C>T
XM_011533338.1:c.7452+42C>T	XP_011531640.1:n.7452+42C>T
XM_011533339.1:c.7512+42C>T	XP_011531641.1:n.7512+42C>T
XM_011533342.1:c.*40+42C>T	XP_011531644.1:n.*40+42C>T
XR_940369.1:n.7548+42C>T
XR_940370.1:n.7548+42C>T
XR_940371.1:n.7548+42C>T
XR_940372.1:n.7522+42C>T
XM_017005688.1:c.7425+42C>T	XP_016861177.1:n.7425+42C>T
XM_017005689.1:c.7485+42C>T	XP_016861178.1:n.7485+42C>T
XM_017005692.1:c.*40+42C>T	XP_016861181.1:n.*40+42C>T
XR_001740003.1:n.7521+42C>T
XR_001740004.1:n.7521+42C>T
XR_001740005.1:n.7521+42C>T
XR_001740006.1:n.7495+42C>T
NM_000094.4:c.7485+42C>T MANE Select	NP_000085.1:n.7485+42C>T