Canonical Allele Identifier: CA388726123

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110211674C>G , CM000675.2:g.110211674C>G	GRCh38
NC_000013.10:g.110864021C>G , CM000675.1:g.110864021C>G	GRCh37
NC_000013.9:g.109662022C>G	NCBI36
NG_011544.2:g.100476G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.442-1G>C MANE Select	NP_001836.3:n.442-1G>C
ENST00000375820.10:c.442-1G>C MANE Select	ENSP00000364979.4:n.442-1G>C
NM_001303110.1:c.442-1G>C	NP_001290039.1:n.442-1G>C
NM_001303110.2:c.442-1G>C	NP_001290039.1:n.442-1G>C
NM_001845.5:c.442-1G>C	NP_001836.3:n.442-1G>C
ENST00000375820.8:c.442-1G>C	ENSP00000364979.4:n.442-1G>C
ENST00000543140.5:c.442-1G>C	ENSP00000443348.1:n.442-1G>C
ENST00000543140.6:c.442-1G>C	ENSP00000443348.1:n.442-1G>C
ENST00000615732.1:c.250-1G>C	ENSP00000478222.1:n.250-1G>C
ENST00000615732.2:c.250-1G>C	ENSP00000478222.2:n.250-1G>C
ENST00000647632.1:n.75-1G>C
ENST00000647797.1:c.321-1G>C
ENST00000648170.1:n.1009G>C
ENST00000648966.1:c.321-1G>C
ENST00000649484.1:c.321-1G>C
ENST00000649738.1:n.572-1G>C
ENST00000650138.1:n.325G>C
XM_011521048.1:c.250-1G>C	XP_011519350.1:n.250-1G>C
XM_011521048.2:c.250-1G>C	XP_011519350.1:n.250-1G>C