Canonical Allele Identifier: CA352635304

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 900576
• ClinVar RCV Id: RCV001145912
• dbSNP Id: rs2043563684
• MyVariant Identifiers: chr3:g.48602926G>A (hg19) ; chr3:g.48565493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565493G>A , CM000665.2:g.48565493G>A	GRCh38
NC_000003.11:g.48602926G>A , CM000665.1:g.48602926G>A	GRCh37
NC_000003.10:g.48577930G>A	NCBI36
NG_007065.1:g.34760C>T , LRG_286:g.34760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8444C>T MANE Select	ENSP00000506558.1:p.Pro2815Leu
ENST00000328333.12:c.8444C>T	ENSP00000332371.8:p.Pro2815Leu
ENST00000487017.5:n.5083C>T
NM_000094.3:c.8444C>T , LRG_286t1:c.8444C>T	NP_000085.1:p.Pro2815Leu
XM_011533336.1:c.8471C>T	XP_011531638.1:p.Pro2824Leu
XM_011533337.1:c.8444C>T	XP_011531639.1:p.Pro2815Leu
XM_011533338.1:c.8411C>T	XP_011531640.1:p.Pro2804Leu
XR_940369.1:n.8507C>T
XR_940370.1:n.8507C>T
XR_940371.1:n.8507C>T
XM_017005688.1:c.8384C>T	XP_016861177.1:p.Pro2795Leu
XR_001740003.1:n.8480C>T
XR_001740004.1:n.8480C>T
XR_001740005.1:n.8480C>T
NM_000094.4:c.8444C>T MANE Select	NP_000085.1:p.Pro2815Leu