Canonical Allele Identifier: CA352641342

Gene: COL7A1

Linked Data

• dbSNP Id: rs1560196406
• gnomAD v4: 3-48567747-G-A
• MyVariant Identifiers: chr3:g.48605180G>A (hg19) ; chr3:g.48567747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567747G>A , CM000665.2:g.48567747G>A	GRCh38
NC_000003.11:g.48605180G>A , CM000665.1:g.48605180G>A	GRCh37
NC_000003.10:g.48580184G>A	NCBI36
NG_007065.1:g.32506C>T , LRG_286:g.32506C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7946C>T MANE Select	ENSP00000506558.1:p.Pro2649Leu
ENST00000328333.12:c.7946C>T	ENSP00000332371.8:p.Pro2649Leu
ENST00000459756.5:n.769C>T
ENST00000487017.5:n.4585C>T
NM_000094.3:c.7946C>T , LRG_286t1:c.7946C>T	NP_000085.1:p.Pro2649Leu
XM_011533336.1:c.7973C>T	XP_011531638.1:p.Pro2658Leu
XM_011533337.1:c.7946C>T	XP_011531639.1:p.Pro2649Leu
XM_011533338.1:c.7913C>T	XP_011531640.1:p.Pro2638Leu
XR_940369.1:n.8009C>T
XR_940370.1:n.8009C>T
XR_940371.1:n.8009C>T
XM_017005688.1:c.7886C>T	XP_016861177.1:p.Pro2629Leu
XR_001740003.1:n.7982C>T
XR_001740004.1:n.7982C>T
XR_001740005.1:n.7982C>T
NM_000094.4:c.7946C>T MANE Select	NP_000085.1:p.Pro2649Leu