Canonical Allele Identifier: CA543045578

Gene: COL7A1

Linked Data

• dbSNP Id: rs1446275743
• gnomAD v2: 3-48605236-G-A
• gnomAD v4: 3-48567803-G-A
• MyVariant Identifiers: chr3:g.48605236G>A (hg19) ; chr3:g.48567803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567803G>A , CM000665.2:g.48567803G>A	GRCh38
NC_000003.11:g.48605236G>A , CM000665.1:g.48605236G>A	GRCh37
NC_000003.10:g.48580240G>A	NCBI36
NG_007065.1:g.32450C>T , LRG_286:g.32450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+35C>T MANE Select	ENSP00000506558.1:n.7929+35C>T
ENST00000328333.12:c.7929+35C>T	ENSP00000332371.8:n.7929+35C>T
ENST00000459756.5:n.752+35C>T
ENST00000487017.5:n.4568+35C>T
NM_000094.3:c.7929+35C>T , LRG_286t1:c.7929+35C>T	NP_000085.1:n.7929+35C>T
XM_011533336.1:c.7956+35C>T	XP_011531638.1:n.7956+35C>T
XM_011533337.1:c.7929+35C>T	XP_011531639.1:n.7929+35C>T
XM_011533338.1:c.7896+35C>T	XP_011531640.1:n.7896+35C>T
XR_940369.1:n.7992+35C>T
XR_940370.1:n.7992+35C>T
XR_940371.1:n.7992+35C>T
XM_017005688.1:c.7869+35C>T	XP_016861177.1:n.7869+35C>T
XR_001740003.1:n.7965+35C>T
XR_001740004.1:n.7965+35C>T
XR_001740005.1:n.7965+35C>T
NM_000094.4:c.7929+35C>T MANE Select	NP_000085.1:n.7929+35C>T