Canonical Allele Identifier: CA7048579

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1423175
• ClinVar RCV Id: RCV001926537
• dbSNP Id: rs61759487
• ExAC: 13:110864921 G / T
• gnomAD v2: 13-110864921-G-T
• gnomAD v3: 13-110212574-G-T
• gnomAD v4: 13-110212574-G-T
• MyVariant Identifiers: chr13:g.110864921G>T (hg19) ; chr13:g.110212574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212574G>T , CM000675.2:g.110212574G>T	GRCh38
NC_000013.10:g.110864921G>T , CM000675.1:g.110864921G>T	GRCh37
NC_000013.9:g.109662922G>T	NCBI36
NG_011544.2:g.99576C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.324C>A MANE Select	ENSP00000364979.4:p.Pro108=
ENST00000543140.6:c.324C>A	ENSP00000443348.1:p.Pro108=
ENST00000615732.2:c.132C>A	ENSP00000478222.2:p.Pro44=
ENST00000647797.1:c.203C>A
ENST00000648170.1:n.203C>A
ENST00000648966.1:c.203C>A
ENST00000649484.1:c.203C>A
ENST00000649738.1:n.454C>A
ENST00000650138.1:n.13C>A
ENST00000375820.8:c.324C>A	ENSP00000364979.4:p.Pro108=
ENST00000543140.5:c.324C>A	ENSP00000443348.1:p.Pro108=
ENST00000615732.1:c.132C>A	ENSP00000478222.1:p.Pro44=
NM_001303110.1:c.324C>A	NP_001290039.1:p.Pro108=
NM_001845.5:c.324C>A	NP_001836.3:p.Pro108=
XM_011521048.1:c.132C>A	XP_011519350.1:p.Pro44=
XM_011521048.2:c.132C>A	XP_011519350.1:p.Pro44=
NM_001845.6:c.324C>A MANE Select	NP_001836.3:p.Pro108=
NM_001303110.2:c.324C>A	NP_001290039.1:p.Pro108=