Canonical Allele Identifier: CA352641221

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1522627
• ClinVar RCV Id: RCV002036154
• dbSNP Id: rs1356408238
• gnomAD v2: 3-48605145-T-A
• gnomAD v3: 3-48567712-T-A
• gnomAD v4: 3-48567712-T-A
• MyVariant Identifiers: chr3:g.48605145T>A (hg19) ; chr3:g.48567712T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567712T>A , CM000665.2:g.48567712T>A	GRCh38
NC_000003.11:g.48605145T>A , CM000665.1:g.48605145T>A	GRCh37
NC_000003.10:g.48580149T>A	NCBI36
NG_007065.1:g.32541A>T , LRG_286:g.32541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7981A>T MANE Select	ENSP00000506558.1:p.Met2661Leu
ENST00000328333.12:c.7981A>T	ENSP00000332371.8:p.Met2661Leu
ENST00000459756.5:n.804A>T
ENST00000487017.5:n.4620A>T
NM_000094.3:c.7981A>T , LRG_286t1:c.7981A>T	NP_000085.1:p.Met2661Leu
XM_011533336.1:c.8008A>T	XP_011531638.1:p.Met2670Leu
XM_011533337.1:c.7981A>T	XP_011531639.1:p.Met2661Leu
XM_011533338.1:c.7948A>T	XP_011531640.1:p.Met2650Leu
XR_940369.1:n.8044A>T
XR_940370.1:n.8044A>T
XR_940371.1:n.8044A>T
XM_017005688.1:c.7921A>T	XP_016861177.1:p.Met2641Leu
XR_001740003.1:n.8017A>T
XR_001740004.1:n.8017A>T
XR_001740005.1:n.8017A>T
NM_000094.4:c.7981A>T MANE Select	NP_000085.1:p.Met2661Leu