Canonical Allele Identifier: CA368060711

Gene: ABCB4

Linked Data

• dbSNP Id: rs1403065170
• gnomAD v2: 7-87041330-G-A
• MyVariant Identifiers: chr7:g.87041330G>A (hg19) ; chr7:g.87412014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87412014G>A , CM000669.2:g.87412014G>A	GRCh38
NC_000007.13:g.87041330G>A , CM000669.1:g.87041330G>A	GRCh37
NC_000007.12:g.86879266G>A	NCBI36
NG_007118.1:g.73419C>T
NG_007118.2:g.73419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2803C>T	ENSP00000352135.3:p.His935Tyr
ENST00000649586.2:c.2803C>T MANE Select	ENSP00000496956.2:p.His935Tyr
ENST00000265723.8:c.2803C>T	ENSP00000265723.4:p.His935Tyr
ENST00000358400.7:c.2783+1603C>T	ENSP00000351172.3:n.2783+1603C>T
ENST00000359206.7:c.2803C>T	ENSP00000352135.3:p.His935Tyr
ENST00000453593.5:c.2783+1603C>T	ENSP00000392983.1:n.2783+1603C>T
NM_000443.3:c.2803C>T	NP_000434.1:p.His935Tyr
NM_018849.2:c.2803C>T	NP_061337.1:p.His935Tyr
NM_018850.2:c.2783+1603C>T	NP_061338.1:n.2783+1603C>T
XM_011516308.1:c.2803C>T	XP_011514610.1:p.His935Tyr
XM_011516309.1:c.2803C>T	XP_011514611.1:p.His935Tyr
XM_011516310.1:c.2698C>T	XP_011514612.1:p.His900Tyr
XM_011516311.1:c.2784-110C>T	XP_011514613.1:n.2784-110C>T
XM_011516312.1:c.2783+1603C>T	XP_011514614.1:n.2783+1603C>T
XM_011516313.1:c.2783+1603C>T	XP_011514615.1:n.2783+1603C>T
XM_011516314.1:c.2824C>T	XP_011514616.1:p.His942Tyr
XM_011516315.1:c.2143C>T	XP_011514617.1:p.His715Tyr
XR_927478.1:n.2779-2622C>T
XM_011516308.3:c.3073C>T	XP_011514610.3:p.His1025Tyr
XM_011516309.3:c.3073C>T	XP_011514611.3:p.His1025Tyr
XM_011516310.3:c.2968C>T	XP_011514612.3:p.His990Tyr
XM_011516311.3:c.3054-110C>T	XP_011514613.3:n.3054-110C>T
XM_011516312.3:c.3053+1603C>T	XP_011514614.3:n.3053+1603C>T
XM_011516313.3:c.3053+1603C>T	XP_011514615.2:n.3053+1603C>T
XM_011516315.3:c.2143C>T	XP_011514617.2:p.His715Tyr
XM_017012323.2:c.2803C>T	XP_016867812.1:p.His935Tyr
XR_001744809.2:n.3454-2622C>T
NM_000443.4:c.2803C>T MANE Select	NP_000434.1:p.His935Tyr
NM_018849.3:c.2803C>T	NP_061337.1:p.His935Tyr
NM_018850.3:c.2783+1603C>T	NP_061338.1:n.2783+1603C>T