Canonical Allele Identifier: CA7048557

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212475A>G , CM000675.2:g.110212475A>G	GRCh38
NC_000013.10:g.110864822A>G , CM000675.1:g.110864822A>G	GRCh37
NC_000013.9:g.109662823A>G	NCBI36
NG_011544.2:g.99675T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.329T>C MANE Select	NP_001836.3:p.Ile110Thr
ENST00000375820.10:c.329T>C MANE Select	ENSP00000364979.4:p.Ile110Thr
NM_001303110.1:c.329T>C	NP_001290039.1:p.Ile110Thr
NM_001303110.2:c.329T>C	NP_001290039.1:p.Ile110Thr
NM_001845.5:c.329T>C	NP_001836.3:p.Ile110Thr
ENST00000375820.8:c.329T>C	ENSP00000364979.4:p.Ile110Thr
ENST00000543140.5:c.329T>C	ENSP00000443348.1:p.Ile110Thr
ENST00000543140.6:c.329T>C	ENSP00000443348.1:p.Ile110Thr
ENST00000615732.1:c.137T>C	ENSP00000478222.1:p.Ile46Thr
ENST00000615732.2:c.137T>C	ENSP00000478222.2:p.Ile46Thr
ENST00000647797.1:c.208T>C
ENST00000648170.1:n.208T>C
ENST00000648966.1:c.208T>C
ENST00000649484.1:c.208T>C
ENST00000649738.1:n.459T>C
ENST00000650138.1:n.18T>C
XM_011521048.1:c.137T>C	XP_011519350.1:p.Ile46Thr
XM_011521048.2:c.137T>C	XP_011519350.1:p.Ile46Thr