Canonical Allele Identifier: CA2623681985

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110207267A>T , CM000675.2:g.110207267A>T	GRCh38
NC_000013.10:g.110859614A>T , CM000675.1:g.110859614A>T	GRCh37
NC_000013.9:g.109657615A>T	NCBI36
NG_011544.2:g.104883T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.780+136T>A MANE Select	NP_001836.3:n.780+136T>A
ENST00000375820.10:c.780+136T>A MANE Select	ENSP00000364979.4:n.780+136T>A
NM_001303110.1:c.780+136T>A	NP_001290039.1:n.780+136T>A
NM_001303110.2:c.780+136T>A	NP_001290039.1:n.780+136T>A
NM_001845.5:c.780+136T>A	NP_001836.3:n.780+136T>A
ENST00000375820.8:c.780+136T>A	ENSP00000364979.4:n.780+136T>A
ENST00000543140.5:c.780+136T>A	ENSP00000443348.1:n.780+136T>A
ENST00000543140.6:c.780+136T>A	ENSP00000443348.1:n.780+136T>A
ENST00000615732.1:c.588+136T>A	ENSP00000478222.1:n.588+136T>A
ENST00000615732.2:c.588+136T>A	ENSP00000478222.2:n.588+136T>A
ENST00000647632.1:n.413+136T>A
ENST00000647797.1:c.659+136T>A
ENST00000649738.1:n.910+136T>A
XM_011521048.1:c.588+136T>A	XP_011519350.1:n.588+136T>A
XM_011521048.2:c.588+136T>A	XP_011519350.1:n.588+136T>A