Canonical Allele Identifier: CA256253035

Gene: COL4A1

Linked Data

• dbSNP Id: rs952647935
• gnomAD v2: 13-110881325-G-A
• gnomAD v3: 13-110228978-G-A
• gnomAD v4: 13-110228978-G-A
• MyVariant Identifiers: chr13:g.110881325G>A (hg19) ; chr13:g.110228978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110228978G>A , CM000675.2:g.110228978G>A	GRCh38
NC_000013.10:g.110881325G>A , CM000675.1:g.110881325G>A	GRCh37
NC_000013.9:g.109679326G>A	NCBI36
NG_011544.2:g.83172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.144+13697C>T MANE Select	ENSP00000364979.4:n.144+13697C>T
ENST00000543140.6:c.144+13697C>T	ENSP00000443348.1:n.144+13697C>T
ENST00000615732.2:c.-49+13697C>T	ENSP00000478222.2:n.-49+13697C>T
ENST00000647797.1:c.23+13697C>T
ENST00000648170.1:n.23+13697C>T
ENST00000648966.1:c.23+13697C>T
ENST00000649484.1:c.23+13697C>T
ENST00000649738.1:n.274+13697C>T
ENST00000375820.8:c.144+13697C>T	ENSP00000364979.4:n.144+13697C>T
ENST00000543140.5:c.144+13697C>T	ENSP00000443348.1:n.144+13697C>T
ENST00000615732.1:c.-49+13693C>T	ENSP00000478222.1:n.-49+13693C>T
NM_001303110.1:c.144+13697C>T	NP_001290039.1:n.144+13697C>T
NM_001845.5:c.144+13697C>T	NP_001836.3:n.144+13697C>T
XM_011521048.1:c.-49+13697C>T	XP_011519350.1:n.-49+13697C>T
XM_011521048.2:c.-49+13697C>T	XP_011519350.1:n.-49+13697C>T
NM_001845.6:c.144+13697C>T MANE Select	NP_001836.3:n.144+13697C>T
NM_001303110.2:c.144+13697C>T	NP_001290039.1:n.144+13697C>T