Canonical Allele Identifier: CA368056804

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031528T>C (hg19) ; chr7:g.87402212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402212T>C , CM000669.2:g.87402212T>C	GRCh38
NC_000007.13:g.87031528T>C , CM000669.1:g.87031528T>C	GRCh37
NC_000007.12:g.86869464T>C	NCBI36
NG_007118.1:g.83221A>G
NG_007118.2:g.83221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3724A>G	ENSP00000352135.3:p.Ile1242Val
ENST00000649586.2:c.3724A>G MANE Select	ENSP00000496956.2:p.Ile1242Val
ENST00000265723.8:c.3745A>G	ENSP00000265723.4:p.Ile1249Val
ENST00000358400.7:c.3583A>G	ENSP00000351172.3:p.Ile1195Val
ENST00000359206.7:c.3724A>G	ENSP00000352135.3:p.Ile1242Val
ENST00000440025.1:c.158A>G
ENST00000453593.5:c.3583A>G	ENSP00000392983.1:p.Ile1195Val
ENST00000467983.1:n.336A>G
NM_000443.3:c.3724A>G	NP_000434.1:p.Ile1242Val
NM_018849.2:c.3745A>G	NP_061337.1:p.Ile1249Val
NM_018850.2:c.3583A>G	NP_061338.1:p.Ile1195Val
XM_011516308.1:c.3745A>G	XP_011514610.1:p.Ile1249Val
XM_011516309.1:c.3724A>G	XP_011514611.1:p.Ile1242Val
XM_011516310.1:c.3640A>G	XP_011514612.1:p.Ile1214Val
XM_011516311.1:c.3616A>G	XP_011514613.1:p.Ile1206Val
XM_011516312.1:c.3604A>G	XP_011514614.1:p.Ile1202Val
XM_011516313.1:c.3583A>G	XP_011514615.1:p.Ile1195Val
XM_011516314.1:c.3766A>G	XP_011514616.1:p.Ile1256Val
XM_011516315.1:c.3085A>G	XP_011514617.1:p.Ile1029Val
XM_011516308.3:c.4015A>G	XP_011514610.3:p.Ile1339Val
XM_011516309.3:c.3994A>G	XP_011514611.3:p.Ile1332Val
XM_011516310.3:c.3910A>G	XP_011514612.3:p.Ile1304Val
XM_011516311.3:c.3886A>G	XP_011514613.3:p.Ile1296Val
XM_011516312.3:c.3874A>G	XP_011514614.3:p.Ile1292Val
XM_011516313.3:c.3853A>G	XP_011514615.2:p.Ile1285Val
XM_011516315.3:c.3085A>G	XP_011514617.2:p.Ile1029Val
XM_017012323.2:c.3745A>G	XP_016867812.1:p.Ile1249Val
XR_001744809.2:n.4253A>G
NM_000443.4:c.3724A>G MANE Select	NP_000434.1:p.Ile1242Val
NM_018849.3:c.3745A>G	NP_061337.1:p.Ile1249Val
NM_018850.3:c.3583A>G	NP_061338.1:p.Ile1195Val