Canonical Allele Identifier: CA368056950

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402248-C-T
• MyVariant Identifiers: chr7:g.87031564C>T (hg19) ; chr7:g.87402248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402248C>T , CM000669.2:g.87402248C>T	GRCh38
NC_000007.13:g.87031564C>T , CM000669.1:g.87031564C>T	GRCh37
NC_000007.12:g.86869500C>T	NCBI36
NG_007118.1:g.83185G>A
NG_007118.2:g.83185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3688G>A	ENSP00000352135.3:p.Ala1230Thr
ENST00000649586.2:c.3688G>A MANE Select	ENSP00000496956.2:p.Ala1230Thr
ENST00000265723.8:c.3709G>A	ENSP00000265723.4:p.Ala1237Thr
ENST00000358400.7:c.3547G>A	ENSP00000351172.3:p.Ala1183Thr
ENST00000359206.7:c.3688G>A	ENSP00000352135.3:p.Ala1230Thr
ENST00000440025.1:c.122G>A
ENST00000453593.5:c.3547G>A	ENSP00000392983.1:p.Ala1183Thr
ENST00000467983.1:n.300G>A
NM_000443.3:c.3688G>A	NP_000434.1:p.Ala1230Thr
NM_018849.2:c.3709G>A	NP_061337.1:p.Ala1237Thr
NM_018850.2:c.3547G>A	NP_061338.1:p.Ala1183Thr
XM_011516308.1:c.3709G>A	XP_011514610.1:p.Ala1237Thr
XM_011516309.1:c.3688G>A	XP_011514611.1:p.Ala1230Thr
XM_011516310.1:c.3604G>A	XP_011514612.1:p.Ala1202Thr
XM_011516311.1:c.3580G>A	XP_011514613.1:p.Ala1194Thr
XM_011516312.1:c.3568G>A	XP_011514614.1:p.Ala1190Thr
XM_011516313.1:c.3547G>A	XP_011514615.1:p.Ala1183Thr
XM_011516314.1:c.3730G>A	XP_011514616.1:p.Ala1244Thr
XM_011516315.1:c.3049G>A	XP_011514617.1:p.Ala1017Thr
XM_011516308.3:c.3979G>A	XP_011514610.3:p.Ala1327Thr
XM_011516309.3:c.3958G>A	XP_011514611.3:p.Ala1320Thr
XM_011516310.3:c.3874G>A	XP_011514612.3:p.Ala1292Thr
XM_011516311.3:c.3850G>A	XP_011514613.3:p.Ala1284Thr
XM_011516312.3:c.3838G>A	XP_011514614.3:p.Ala1280Thr
XM_011516313.3:c.3817G>A	XP_011514615.2:p.Ala1273Thr
XM_011516315.3:c.3049G>A	XP_011514617.2:p.Ala1017Thr
XM_017012323.2:c.3709G>A	XP_016867812.1:p.Ala1237Thr
XR_001744809.2:n.4217G>A
NM_000443.4:c.3688G>A MANE Select	NP_000434.1:p.Ala1230Thr
NM_018849.3:c.3709G>A	NP_061337.1:p.Ala1237Thr
NM_018850.3:c.3547G>A	NP_061338.1:p.Ala1183Thr