Canonical Allele Identifier: CA456357878

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2755297
• ClinVar RCV Id: RCV003564276
• MyVariant Identifiers: chr7:g.87041280G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411964G>C , CM000669.2:g.87411964G>C	GRCh38
NC_000007.13:g.87041280G>C , CM000669.1:g.87041280G>C	GRCh37
NC_000007.12:g.86879216G>C	NCBI36
NG_007118.1:g.73469C>G
NG_007118.2:g.73469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2853C>G	ENSP00000352135.3:p.Ser951=
ENST00000649586.2:c.2853C>G MANE Select	ENSP00000496956.2:p.Ser951=
ENST00000265723.8:c.2853C>G	ENSP00000265723.4:p.Ser951=
ENST00000358400.7:c.2783+1653C>G	ENSP00000351172.3:n.2783+1653C>G
ENST00000359206.7:c.2853C>G	ENSP00000352135.3:p.Ser951=
ENST00000453593.5:c.2783+1653C>G	ENSP00000392983.1:n.2783+1653C>G
NM_000443.3:c.2853C>G	NP_000434.1:p.Ser951=
NM_018849.2:c.2853C>G	NP_061337.1:p.Ser951=
NM_018850.2:c.2783+1653C>G	NP_061338.1:n.2783+1653C>G
XM_011516308.1:c.2853C>G	XP_011514610.1:p.Ser951=
XM_011516309.1:c.2853C>G	XP_011514611.1:p.Ser951=
XM_011516310.1:c.2748C>G	XP_011514612.1:p.Ser916=
XM_011516311.1:c.2784-60C>G	XP_011514613.1:n.2784-60C>G
XM_011516312.1:c.2783+1653C>G	XP_011514614.1:n.2783+1653C>G
XM_011516313.1:c.2783+1653C>G	XP_011514615.1:n.2783+1653C>G
XM_011516314.1:c.2874C>G	XP_011514616.1:p.Ser958=
XM_011516315.1:c.2193C>G	XP_011514617.1:p.Ser731=
XR_927478.1:n.2779-2572C>G
XM_011516308.3:c.3123C>G	XP_011514610.3:p.Ser1041=
XM_011516309.3:c.3123C>G	XP_011514611.3:p.Ser1041=
XM_011516310.3:c.3018C>G	XP_011514612.3:p.Ser1006=
XM_011516311.3:c.3054-60C>G	XP_011514613.3:n.3054-60C>G
XM_011516312.3:c.3053+1653C>G	XP_011514614.3:n.3053+1653C>G
XM_011516313.3:c.3053+1653C>G	XP_011514615.2:n.3053+1653C>G
XM_011516315.3:c.2193C>G	XP_011514617.2:p.Ser731=
XM_017012323.2:c.2853C>G	XP_016867812.1:p.Ser951=
XR_001744809.2:n.3454-2572C>G
NM_000443.4:c.2853C>G MANE Select	NP_000434.1:p.Ser951=
NM_018849.3:c.2853C>G	NP_061337.1:p.Ser951=
NM_018850.3:c.2783+1653C>G	NP_061338.1:n.2783+1653C>G