Canonical Allele Identifier: CA352641633

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605312C>A (hg19) ; chr3:g.48567879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567879C>A , CM000665.2:g.48567879C>A	GRCh38
NC_000003.11:g.48605312C>A , CM000665.1:g.48605312C>A	GRCh37
NC_000003.10:g.48580316C>A	NCBI36
NG_007065.1:g.32374G>T , LRG_286:g.32374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7888G>T MANE Select	ENSP00000506558.1:p.Val2630Leu
ENST00000328333.12:c.7888G>T	ENSP00000332371.8:p.Val2630Leu
ENST00000459756.5:n.711G>T
ENST00000487017.5:n.4527G>T
NM_000094.3:c.7888G>T , LRG_286t1:c.7888G>T	NP_000085.1:p.Val2630Leu
XM_011533336.1:c.7915G>T	XP_011531638.1:p.Val2639Leu
XM_011533337.1:c.7888G>T	XP_011531639.1:p.Val2630Leu
XM_011533338.1:c.7855G>T	XP_011531640.1:p.Val2619Leu
XR_940369.1:n.7951G>T
XR_940370.1:n.7951G>T
XR_940371.1:n.7951G>T
XM_017005688.1:c.7828G>T	XP_016861177.1:p.Val2610Leu
XR_001740003.1:n.7924G>T
XR_001740004.1:n.7924G>T
XR_001740005.1:n.7924G>T
NM_000094.4:c.7888G>T MANE Select	NP_000085.1:p.Val2630Leu