Canonical Allele Identifier: CA2577587531

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566208-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566208C>T , CM000665.2:g.48566208C>T	GRCh38
NC_000003.11:g.48603641C>T , CM000665.1:g.48603641C>T	GRCh37
NC_000003.10:g.48578645C>T	NCBI36
NG_007065.1:g.34045G>A , LRG_286:g.34045G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8407+59G>A MANE Select	ENSP00000506558.1:n.8407+59G>A
ENST00000328333.12:c.8407+59G>A	ENSP00000332371.8:n.8407+59G>A
ENST00000487017.5:n.5046+59G>A
NM_000094.3:c.8407+59G>A , LRG_286t1:c.8407+59G>A	NP_000085.1:n.8407+59G>A
XM_011533336.1:c.8434+59G>A	XP_011531638.1:n.8434+59G>A
XM_011533337.1:c.8407+59G>A	XP_011531639.1:n.8407+59G>A
XM_011533338.1:c.8374+59G>A	XP_011531640.1:n.8374+59G>A
XR_940369.1:n.8470+59G>A
XR_940370.1:n.8470+59G>A
XR_940371.1:n.8470+59G>A
XM_017005688.1:c.8347+59G>A	XP_016861177.1:n.8347+59G>A
XR_001740003.1:n.8443+59G>A
XR_001740004.1:n.8443+59G>A
XR_001740005.1:n.8443+59G>A
NM_000094.4:c.8407+59G>A MANE Select	NP_000085.1:n.8407+59G>A