Canonical Allele Identifier: CA2378338

Gene: COL7A1

Linked Data

• dbSNP Id: rs760755454
• ExAC: 3:48606230 A / G
• gnomAD v2: 3-48606230-A-G
• gnomAD v3: 3-48568797-A-G
• gnomAD v4: 3-48568797-A-G
• MyVariant Identifiers: chr3:g.48606230A>G (hg19) ; chr3:g.48568797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568797A>G , CM000665.2:g.48568797A>G	GRCh38
NC_000003.11:g.48606230A>G , CM000665.1:g.48606230A>G	GRCh37
NC_000003.10:g.48581234A>G	NCBI36
NG_007065.1:g.31456T>C , LRG_286:g.31456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7745T>C MANE Select	ENSP00000506558.1:p.Leu2582Pro
ENST00000328333.12:c.7745T>C	ENSP00000332371.8:p.Leu2582Pro
ENST00000459756.5:n.568T>C
ENST00000467985.1:n.591T>C
ENST00000487017.5:n.4384T>C
NM_000094.3:c.7745T>C , LRG_286t1:c.7745T>C	NP_000085.1:p.Leu2582Pro
XM_011533336.1:c.7772T>C	XP_011531638.1:p.Leu2591Pro
XM_011533337.1:c.7745T>C	XP_011531639.1:p.Leu2582Pro
XM_011533338.1:c.7712T>C	XP_011531640.1:p.Leu2571Pro
XM_011533339.1:c.7772T>C	XP_011531641.1:p.Leu2591Pro
XR_940369.1:n.7808T>C
XR_940370.1:n.7808T>C
XR_940371.1:n.7808T>C
XR_940372.1:n.7782T>C
XM_017005688.1:c.7685T>C	XP_016861177.1:p.Leu2562Pro
XM_017005689.1:c.7745T>C	XP_016861178.1:p.Leu2582Pro
XR_001740003.1:n.7781T>C
XR_001740004.1:n.7781T>C
XR_001740005.1:n.7781T>C
XR_001740006.1:n.7755T>C
NM_000094.4:c.7745T>C MANE Select	NP_000085.1:p.Leu2582Pro