Canonical Allele Identifier: CA2378340

Gene: COL7A1

Linked Data

• dbSNP Id: rs754090292
• ExAC: 3:48606231 G / A
• gnomAD v2: 3-48606231-G-A
• gnomAD v4: 3-48568798-G-A
• MyVariant Identifiers: chr3:g.48606231G>A (hg19) ; chr3:g.48568798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568798G>A , CM000665.2:g.48568798G>A	GRCh38
NC_000003.11:g.48606231G>A , CM000665.1:g.48606231G>A	GRCh37
NC_000003.10:g.48581235G>A	NCBI36
NG_007065.1:g.31455C>T , LRG_286:g.31455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7744C>T MANE Select	ENSP00000506558.1:p.Leu2582Phe
ENST00000328333.12:c.7744C>T	ENSP00000332371.8:p.Leu2582Phe
ENST00000459756.5:n.567C>T
ENST00000467985.1:n.590C>T
ENST00000487017.5:n.4383C>T
NM_000094.3:c.7744C>T , LRG_286t1:c.7744C>T	NP_000085.1:p.Leu2582Phe
XM_011533336.1:c.7771C>T	XP_011531638.1:p.Leu2591Phe
XM_011533337.1:c.7744C>T	XP_011531639.1:p.Leu2582Phe
XM_011533338.1:c.7711C>T	XP_011531640.1:p.Leu2571Phe
XM_011533339.1:c.7771C>T	XP_011531641.1:p.Leu2591Phe
XR_940369.1:n.7807C>T
XR_940370.1:n.7807C>T
XR_940371.1:n.7807C>T
XR_940372.1:n.7781C>T
XM_017005688.1:c.7684C>T	XP_016861177.1:p.Leu2562Phe
XM_017005689.1:c.7744C>T	XP_016861178.1:p.Leu2582Phe
XR_001740003.1:n.7780C>T
XR_001740004.1:n.7780C>T
XR_001740005.1:n.7780C>T
XR_001740006.1:n.7754C>T
NM_000094.4:c.7744C>T MANE Select	NP_000085.1:p.Leu2582Phe