Canonical Allele Identifier: CA456356160
Gene: ABCB4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.87031526T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402210T>G , CM000669.2:g.87402210T>G GRCh38
NC_000007.13:g.87031526T>G , CM000669.1:g.87031526T>G GRCh37
NC_000007.12:g.86869462T>G NCBI36
NG_007118.1:g.83223A>C
NG_007118.2:g.83223A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3726A>C ENSP00000352135.3:p.Ile1242=
ENST00000649586.2:c.3726A>C MANE Select ENSP00000496956.2:p.Ile1242=
ENST00000265723.8:c.3747A>C ENSP00000265723.4:p.Ile1249=
ENST00000358400.7:c.3585A>C ENSP00000351172.3:p.Ile1195=
ENST00000359206.7:c.3726A>C ENSP00000352135.3:p.Ile1242=
ENST00000440025.1:c.160A>C
ENST00000453593.5:c.3585A>C ENSP00000392983.1:p.Ile1195=
ENST00000467983.1:n.338A>C
NM_000443.3:c.3726A>C NP_000434.1:p.Ile1242=
NM_018849.2:c.3747A>C NP_061337.1:p.Ile1249=
NM_018850.2:c.3585A>C NP_061338.1:p.Ile1195=
XM_011516308.1:c.3747A>C XP_011514610.1:p.Ile1249=
XM_011516309.1:c.3726A>C XP_011514611.1:p.Ile1242=
XM_011516310.1:c.3642A>C XP_011514612.1:p.Ile1214=
XM_011516311.1:c.3618A>C XP_011514613.1:p.Ile1206=
XM_011516312.1:c.3606A>C XP_011514614.1:p.Ile1202=
XM_011516313.1:c.3585A>C XP_011514615.1:p.Ile1195=
XM_011516314.1:c.3768A>C XP_011514616.1:p.Ile1256=
XM_011516315.1:c.3087A>C XP_011514617.1:p.Ile1029=
XM_011516308.3:c.4017A>C XP_011514610.3:p.Ile1339=
XM_011516309.3:c.3996A>C XP_011514611.3:p.Ile1332=
XM_011516310.3:c.3912A>C XP_011514612.3:p.Ile1304=
XM_011516311.3:c.3888A>C XP_011514613.3:p.Ile1296=
XM_011516312.3:c.3876A>C XP_011514614.3:p.Ile1292=
XM_011516313.3:c.3855A>C XP_011514615.2:p.Ile1285=
XM_011516315.3:c.3087A>C XP_011514617.2:p.Ile1029=
XM_017012323.2:c.3747A>C XP_016867812.1:p.Ile1249=
XR_001744809.2:n.4255A>C
NM_000443.4:c.3726A>C MANE Select NP_000434.1:p.Ile1242=
NM_018849.3:c.3747A>C NP_061337.1:p.Ile1249=
NM_018850.3:c.3585A>C NP_061338.1:p.Ile1195=