Canonical Allele Identifier: CA368056780

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031518A>G (hg19) ; chr7:g.87402202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402202A>G , CM000669.2:g.87402202A>G	GRCh38
NC_000007.13:g.87031518A>G , CM000669.1:g.87031518A>G	GRCh37
NC_000007.12:g.86869454A>G	NCBI36
NG_007118.1:g.83231T>C
NG_007118.2:g.83231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3734T>C	ENSP00000352135.3:p.Phe1245Ser
ENST00000649586.2:c.3734T>C MANE Select	ENSP00000496956.2:p.Phe1245Ser
ENST00000265723.8:c.3755T>C	ENSP00000265723.4:p.Phe1252Ser
ENST00000358400.7:c.3593T>C	ENSP00000351172.3:p.Phe1198Ser
ENST00000359206.7:c.3734T>C	ENSP00000352135.3:p.Phe1245Ser
ENST00000440025.1:c.168T>C
ENST00000453593.5:c.3593T>C	ENSP00000392983.1:p.Phe1198Ser
ENST00000467983.1:n.346T>C
NM_000443.3:c.3734T>C	NP_000434.1:p.Phe1245Ser
NM_018849.2:c.3755T>C	NP_061337.1:p.Phe1252Ser
NM_018850.2:c.3593T>C	NP_061338.1:p.Phe1198Ser
XM_011516308.1:c.3755T>C	XP_011514610.1:p.Phe1252Ser
XM_011516309.1:c.3734T>C	XP_011514611.1:p.Phe1245Ser
XM_011516310.1:c.3650T>C	XP_011514612.1:p.Phe1217Ser
XM_011516311.1:c.3626T>C	XP_011514613.1:p.Phe1209Ser
XM_011516312.1:c.3614T>C	XP_011514614.1:p.Phe1205Ser
XM_011516313.1:c.3593T>C	XP_011514615.1:p.Phe1198Ser
XM_011516314.1:c.3776T>C	XP_011514616.1:p.Phe1259Ser
XM_011516315.1:c.3095T>C	XP_011514617.1:p.Phe1032Ser
XM_011516308.3:c.4025T>C	XP_011514610.3:p.Phe1342Ser
XM_011516309.3:c.4004T>C	XP_011514611.3:p.Phe1335Ser
XM_011516310.3:c.3920T>C	XP_011514612.3:p.Phe1307Ser
XM_011516311.3:c.3896T>C	XP_011514613.3:p.Phe1299Ser
XM_011516312.3:c.3884T>C	XP_011514614.3:p.Phe1295Ser
XM_011516313.3:c.3863T>C	XP_011514615.2:p.Phe1288Ser
XM_011516315.3:c.3095T>C	XP_011514617.2:p.Phe1032Ser
XM_017012323.2:c.3755T>C	XP_016867812.1:p.Phe1252Ser
XR_001744809.2:n.4263T>C
NM_000443.4:c.3734T>C MANE Select	NP_000434.1:p.Phe1245Ser
NM_018849.3:c.3755T>C	NP_061337.1:p.Phe1252Ser
NM_018850.3:c.3593T>C	NP_061338.1:p.Phe1198Ser