Canonical Allele Identifier: CA542787855

Gene: COL7A1

Linked Data

• dbSNP Id: rs1400856724
• gnomAD v2: 3-48604052-T-A
• gnomAD v4: 3-48566619-T-A
• MyVariant Identifiers: chr3:g.48604052T>A (hg19) ; chr3:g.48566619T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566619T>A , CM000665.2:g.48566619T>A	GRCh38
NC_000003.11:g.48604052T>A , CM000665.1:g.48604052T>A	GRCh37
NC_000003.10:g.48579056T>A	NCBI36
NG_007065.1:g.33634A>T , LRG_286:g.33634A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8304+41A>T MANE Select	ENSP00000506558.1:n.8304+41A>T
ENST00000328333.12:c.8304+41A>T	ENSP00000332371.8:n.8304+41A>T
ENST00000474432.1:n.704+41A>T
ENST00000487017.5:n.4943+41A>T
NM_000094.3:c.8304+41A>T , LRG_286t1:c.8304+41A>T	NP_000085.1:n.8304+41A>T
XM_011533336.1:c.8331+41A>T	XP_011531638.1:n.8331+41A>T
XM_011533337.1:c.8304+41A>T	XP_011531639.1:n.8304+41A>T
XM_011533338.1:c.8271+41A>T	XP_011531640.1:n.8271+41A>T
XR_940369.1:n.8367+41A>T
XR_940370.1:n.8367+41A>T
XR_940371.1:n.8367+41A>T
XM_017005688.1:c.8244+41A>T	XP_016861177.1:n.8244+41A>T
XR_001740003.1:n.8340+41A>T
XR_001740004.1:n.8340+41A>T
XR_001740005.1:n.8340+41A>T
NM_000094.4:c.8304+41A>T MANE Select	NP_000085.1:n.8304+41A>T