Canonical Allele Identifier: CA162104952

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 1329785
• ClinVar RCV Id: RCV001800093
• dbSNP Id: rs371806200
• gnomAD v2: 7-87041116-AC-A
• gnomAD v3: 7-87411800-AC-A
• gnomAD v4: 7-87411800-AC-A
• MyVariant Identifiers: chr7:g.87041117del (hg19) ; chr7:g.87411801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411801del , CM000669.2:g.87411801del	GRCh38
NC_000007.13:g.87041117del , CM000669.1:g.87041117del	GRCh37
NC_000007.12:g.86879053del	NCBI36
NG_007118.1:g.73632del
NG_007118.2:g.73632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2924+92del	ENSP00000352135.3:n.2924+92del
ENST00000649586.2:c.2924+92del MANE Select	ENSP00000496956.2:n.2924+92del
ENST00000265723.8:c.2924+92del	ENSP00000265723.4:n.2924+92del
ENST00000358400.7:c.2783+1816del	ENSP00000351172.3:n.2783+1816del
ENST00000359206.7:c.2924+92del	ENSP00000352135.3:n.2924+92del
ENST00000453593.5:c.2783+1816del	ENSP00000392983.1:n.2783+1816del
NM_000443.3:c.2924+92del	NP_000434.1:n.2924+92del
NM_018849.2:c.2924+92del	NP_061337.1:n.2924+92del
NM_018850.2:c.2783+1816del	NP_061338.1:n.2783+1816del
XM_011516308.1:c.2924+92del	XP_011514610.1:n.2924+92del
XM_011516309.1:c.2924+92del	XP_011514611.1:n.2924+92del
XM_011516310.1:c.2819+92del	XP_011514612.1:n.2819+92del
XM_011516311.1:c.2795+92del	XP_011514613.1:n.2795+92del
XM_011516312.1:c.2783+1816del	XP_011514614.1:n.2783+1816del
XM_011516313.1:c.2783+1816del	XP_011514615.1:n.2783+1816del
XM_011516314.1:c.2945+92del	XP_011514616.1:n.2945+92del
XM_011516315.1:c.2264+92del	XP_011514617.1:n.2264+92del
XR_927478.1:n.2779-2409del
XM_011516308.3:c.3194+92del	XP_011514610.3:n.3194+92del
XM_011516309.3:c.3194+92del	XP_011514611.3:n.3194+92del
XM_011516310.3:c.3089+92del	XP_011514612.3:n.3089+92del
XM_011516311.3:c.3065+92del	XP_011514613.3:n.3065+92del
XM_011516312.3:c.3053+1816del	XP_011514614.3:n.3053+1816del
XM_011516313.3:c.3053+1816del	XP_011514615.2:n.3053+1816del
XM_011516315.3:c.2264+92del	XP_011514617.2:n.2264+92del
XM_017012323.2:c.2924+92del	XP_016867812.1:n.2924+92del
XR_001744809.2:n.3454-2409del
NM_000443.4:c.2924+92del MANE Select	NP_000434.1:n.2924+92del
NM_018849.3:c.2924+92del	NP_061337.1:n.2924+92del
NM_018850.3:c.2783+1816del	NP_061338.1:n.2783+1816del