Canonical Allele Identifier: CA368056874

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031546T>G (hg19) ; chr7:g.87402230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402230T>G , CM000669.2:g.87402230T>G	GRCh38
NC_000007.13:g.87031546T>G , CM000669.1:g.87031546T>G	GRCh37
NC_000007.12:g.86869482T>G	NCBI36
NG_007118.1:g.83203A>C
NG_007118.2:g.83203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3706A>C	ENSP00000352135.3:p.Ile1236Leu
ENST00000649586.2:c.3706A>C MANE Select	ENSP00000496956.2:p.Ile1236Leu
ENST00000265723.8:c.3727A>C	ENSP00000265723.4:p.Ile1243Leu
ENST00000358400.7:c.3565A>C	ENSP00000351172.3:p.Ile1189Leu
ENST00000359206.7:c.3706A>C	ENSP00000352135.3:p.Ile1236Leu
ENST00000440025.1:c.140A>C
ENST00000453593.5:c.3565A>C	ENSP00000392983.1:p.Ile1189Leu
ENST00000467983.1:n.318A>C
NM_000443.3:c.3706A>C	NP_000434.1:p.Ile1236Leu
NM_018849.2:c.3727A>C	NP_061337.1:p.Ile1243Leu
NM_018850.2:c.3565A>C	NP_061338.1:p.Ile1189Leu
XM_011516308.1:c.3727A>C	XP_011514610.1:p.Ile1243Leu
XM_011516309.1:c.3706A>C	XP_011514611.1:p.Ile1236Leu
XM_011516310.1:c.3622A>C	XP_011514612.1:p.Ile1208Leu
XM_011516311.1:c.3598A>C	XP_011514613.1:p.Ile1200Leu
XM_011516312.1:c.3586A>C	XP_011514614.1:p.Ile1196Leu
XM_011516313.1:c.3565A>C	XP_011514615.1:p.Ile1189Leu
XM_011516314.1:c.3748A>C	XP_011514616.1:p.Ile1250Leu
XM_011516315.1:c.3067A>C	XP_011514617.1:p.Ile1023Leu
XM_011516308.3:c.3997A>C	XP_011514610.3:p.Ile1333Leu
XM_011516309.3:c.3976A>C	XP_011514611.3:p.Ile1326Leu
XM_011516310.3:c.3892A>C	XP_011514612.3:p.Ile1298Leu
XM_011516311.3:c.3868A>C	XP_011514613.3:p.Ile1290Leu
XM_011516312.3:c.3856A>C	XP_011514614.3:p.Ile1286Leu
XM_011516313.3:c.3835A>C	XP_011514615.2:p.Ile1279Leu
XM_011516315.3:c.3067A>C	XP_011514617.2:p.Ile1023Leu
XM_017012323.2:c.3727A>C	XP_016867812.1:p.Ile1243Leu
XR_001744809.2:n.4235A>C
NM_000443.4:c.3706A>C MANE Select	NP_000434.1:p.Ile1236Leu
NM_018849.3:c.3727A>C	NP_061337.1:p.Ile1243Leu
NM_018850.3:c.3565A>C	NP_061338.1:p.Ile1189Leu