Canonical Allele Identifier: CA256276812

Gene: COL4A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110276815C>T , CM000675.2:g.110276815C>T	GRCh38
NC_000013.10:g.110929162C>T , CM000675.1:g.110929162C>T	GRCh37
NC_000013.9:g.109727163C>T	NCBI36
NG_011544.2:g.35335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.84+30129G>A MANE Select	ENSP00000364979.4:n.84+30129G>A
ENST00000543140.6:c.84+30129G>A	ENSP00000443348.1:n.84+30129G>A
ENST00000615732.2:c.-109+21790G>A	ENSP00000478222.2:n.-109+21790G>A
ENST00000649738.1:n.214+30129G>A
ENST00000375820.8:c.84+30129G>A	ENSP00000364979.4:n.84+30129G>A
ENST00000543140.5:c.84+30129G>A	ENSP00000443348.1:n.84+30129G>A
ENST00000615732.1:c.-113+21790G>A	ENSP00000478222.1:n.-113+21790G>A
NM_001303110.1:c.84+30129G>A	NP_001290039.1:n.84+30129G>A
NM_001845.5:c.84+30129G>A	NP_001836.3:n.84+30129G>A
XM_011521048.1:c.-109+21790G>A	XP_011519350.1:n.-109+21790G>A
XM_011521048.2:c.-109+21790G>A	XP_011519350.1:n.-109+21790G>A
NM_001845.6:c.84+30129G>A MANE Select	NP_001836.3:n.84+30129G>A
NM_001303110.2:c.84+30129G>A	NP_001290039.1:n.84+30129G>A