Canonical Allele Identifier: CA368056794

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031525C>A (hg19) ; chr7:g.87402209C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402209C>A , CM000669.2:g.87402209C>A	GRCh38
NC_000007.13:g.87031525C>A , CM000669.1:g.87031525C>A	GRCh37
NC_000007.12:g.86869461C>A	NCBI36
NG_007118.1:g.83224G>T
NG_007118.2:g.83224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3727G>T	ENSP00000352135.3:p.Val1243Leu
ENST00000649586.2:c.3727G>T MANE Select	ENSP00000496956.2:p.Val1243Leu
ENST00000265723.8:c.3748G>T	ENSP00000265723.4:p.Val1250Leu
ENST00000358400.7:c.3586G>T	ENSP00000351172.3:p.Val1196Leu
ENST00000359206.7:c.3727G>T	ENSP00000352135.3:p.Val1243Leu
ENST00000440025.1:c.161G>T
ENST00000453593.5:c.3586G>T	ENSP00000392983.1:p.Val1196Leu
ENST00000467983.1:n.339G>T
NM_000443.3:c.3727G>T	NP_000434.1:p.Val1243Leu
NM_018849.2:c.3748G>T	NP_061337.1:p.Val1250Leu
NM_018850.2:c.3586G>T	NP_061338.1:p.Val1196Leu
XM_011516308.1:c.3748G>T	XP_011514610.1:p.Val1250Leu
XM_011516309.1:c.3727G>T	XP_011514611.1:p.Val1243Leu
XM_011516310.1:c.3643G>T	XP_011514612.1:p.Val1215Leu
XM_011516311.1:c.3619G>T	XP_011514613.1:p.Val1207Leu
XM_011516312.1:c.3607G>T	XP_011514614.1:p.Val1203Leu
XM_011516313.1:c.3586G>T	XP_011514615.1:p.Val1196Leu
XM_011516314.1:c.3769G>T	XP_011514616.1:p.Val1257Leu
XM_011516315.1:c.3088G>T	XP_011514617.1:p.Val1030Leu
XM_011516308.3:c.4018G>T	XP_011514610.3:p.Val1340Leu
XM_011516309.3:c.3997G>T	XP_011514611.3:p.Val1333Leu
XM_011516310.3:c.3913G>T	XP_011514612.3:p.Val1305Leu
XM_011516311.3:c.3889G>T	XP_011514613.3:p.Val1297Leu
XM_011516312.3:c.3877G>T	XP_011514614.3:p.Val1293Leu
XM_011516313.3:c.3856G>T	XP_011514615.2:p.Val1286Leu
XM_011516315.3:c.3088G>T	XP_011514617.2:p.Val1030Leu
XM_017012323.2:c.3748G>T	XP_016867812.1:p.Val1250Leu
XR_001744809.2:n.4256G>T
NM_000443.4:c.3727G>T MANE Select	NP_000434.1:p.Val1243Leu
NM_018849.3:c.3748G>T	NP_061337.1:p.Val1250Leu
NM_018850.3:c.3586G>T	NP_061338.1:p.Val1196Leu