Canonical Allele Identifier: CA388726560

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110864933G>C (hg19) ; chr13:g.110212586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212586G>C , CM000675.2:g.110212586G>C	GRCh38
NC_000013.10:g.110864933G>C , CM000675.1:g.110864933G>C	GRCh37
NC_000013.9:g.109662934G>C	NCBI36
NG_011544.2:g.99564C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.312C>G MANE Select	ENSP00000364979.4:p.Asn104Lys
ENST00000543140.6:c.312C>G	ENSP00000443348.1:p.Asn104Lys
ENST00000615732.2:c.120C>G	ENSP00000478222.2:p.Asn40Lys
ENST00000647797.1:c.191C>G
ENST00000648170.1:n.191C>G
ENST00000648966.1:c.191C>G
ENST00000649484.1:c.191C>G
ENST00000649738.1:n.442C>G
ENST00000650138.1:n.1C>G
ENST00000375820.8:c.312C>G	ENSP00000364979.4:p.Asn104Lys
ENST00000543140.5:c.312C>G	ENSP00000443348.1:p.Asn104Lys
ENST00000615732.1:c.120C>G	ENSP00000478222.1:p.Asn40Lys
NM_001303110.1:c.312C>G	NP_001290039.1:p.Asn104Lys
NM_001845.5:c.312C>G	NP_001836.3:p.Asn104Lys
XM_011521048.1:c.120C>G	XP_011519350.1:p.Asn40Lys
XM_011521048.2:c.120C>G	XP_011519350.1:p.Asn40Lys
NM_001845.6:c.312C>G MANE Select	NP_001836.3:p.Asn104Lys
NM_001303110.2:c.312C>G	NP_001290039.1:p.Asn104Lys