Canonical Allele Identifier: CA352636241

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2882332
• ClinVar RCV Id: RCV003719547
• dbSNP Id: rs1236645507
• gnomAD v4: 3-48566282-T-C
• MyVariant Identifiers: chr3:g.48603715T>C (hg19) ; chr3:g.48566282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566282T>C , CM000665.2:g.48566282T>C	GRCh38
NC_000003.11:g.48603715T>C , CM000665.1:g.48603715T>C	GRCh37
NC_000003.10:g.48578719T>C	NCBI36
NG_007065.1:g.33971A>G , LRG_286:g.33971A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8392A>G MANE Select	ENSP00000506558.1:p.Met2798Val
ENST00000328333.12:c.8392A>G	ENSP00000332371.8:p.Met2798Val
ENST00000487017.5:n.5031A>G
NM_000094.3:c.8392A>G , LRG_286t1:c.8392A>G	NP_000085.1:p.Met2798Val
XM_011533336.1:c.8419A>G	XP_011531638.1:p.Met2807Val
XM_011533337.1:c.8392A>G	XP_011531639.1:p.Met2798Val
XM_011533338.1:c.8359A>G	XP_011531640.1:p.Met2787Val
XR_940369.1:n.8455A>G
XR_940370.1:n.8455A>G
XR_940371.1:n.8455A>G
XM_017005688.1:c.8332A>G	XP_016861177.1:p.Met2778Val
XR_001740003.1:n.8428A>G
XR_001740004.1:n.8428A>G
XR_001740005.1:n.8428A>G
NM_000094.4:c.8392A>G MANE Select	NP_000085.1:p.Met2798Val