Canonical Allele Identifier: CA388726306

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212427T>C , CM000675.2:g.110212427T>C	GRCh38
NC_000013.10:g.110864774T>C , CM000675.1:g.110864774T>C	GRCh37
NC_000013.9:g.109662775T>C	NCBI36
NG_011544.2:g.99723A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.377A>G MANE Select	NP_001836.3:p.Asn126Ser
ENST00000375820.10:c.377A>G MANE Select	ENSP00000364979.4:p.Asn126Ser
NM_001303110.1:c.377A>G	NP_001290039.1:p.Asn126Ser
NM_001303110.2:c.377A>G	NP_001290039.1:p.Asn126Ser
NM_001845.5:c.377A>G	NP_001836.3:p.Asn126Ser
ENST00000375820.8:c.377A>G	ENSP00000364979.4:p.Asn126Ser
ENST00000543140.5:c.377A>G	ENSP00000443348.1:p.Asn126Ser
ENST00000543140.6:c.377A>G	ENSP00000443348.1:p.Asn126Ser
ENST00000615732.1:c.185A>G	ENSP00000478222.1:p.Asn62Ser
ENST00000615732.2:c.185A>G	ENSP00000478222.2:p.Asn62Ser
ENST00000647632.1:n.10A>G
ENST00000647797.1:c.256A>G
ENST00000648170.1:n.256A>G
ENST00000648966.1:c.256A>G
ENST00000649484.1:c.256A>G
ENST00000649738.1:n.507A>G
ENST00000650138.1:n.66A>G
XM_011521048.1:c.185A>G	XP_011519350.1:p.Asn62Ser
XM_011521048.2:c.185A>G	XP_011519350.1:p.Asn62Ser