Canonical Allele Identifier: CA202302

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110213999G>A , CM000675.2:g.110213999G>A	GRCh38
NC_000013.10:g.110866346G>A , CM000675.1:g.110866346G>A	GRCh37
NC_000013.9:g.109664347G>A	NCBI36
NG_011544.2:g.98151C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.161C>T MANE Select	NP_001836.3:p.Pro54Leu
ENST00000375820.10:c.161C>T MANE Select	ENSP00000364979.4:p.Pro54Leu
NM_001303110.1:c.161C>T	NP_001290039.1:p.Pro54Leu
NM_001303110.2:c.161C>T	NP_001290039.1:p.Pro54Leu
NM_001845.5:c.161C>T	NP_001836.3:p.Pro54Leu
ENST00000375820.8:c.161C>T	ENSP00000364979.4:p.Pro54Leu
ENST00000543140.5:c.161C>T	ENSP00000443348.1:p.Pro54Leu
ENST00000543140.6:c.161C>T	ENSP00000443348.1:p.Pro54Leu
ENST00000615732.1:c.-32C>T	ENSP00000478222.1:n.-32C>T
ENST00000615732.2:c.-32C>T	ENSP00000478222.2:n.-32C>T
ENST00000647797.1:c.40C>T
ENST00000648170.1:n.40C>T
ENST00000648966.1:c.40C>T
ENST00000649484.1:c.40C>T
ENST00000649738.1:n.291C>T
XM_011521048.1:c.-32C>T	XP_011519350.1:n.-32C>T
XM_011521048.2:c.-32C>T	XP_011519350.1:n.-32C>T