Canonical Allele Identifier: CA349132611

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169853168C>A (hg19) ; chr2:g.168996658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996658C>A , CM000664.2:g.168996658C>A	GRCh38
NC_000002.11:g.169853168C>A , CM000664.1:g.169853168C>A	GRCh37
NC_000002.10:g.169561414C>A	NCBI36
NG_007374.1:g.39666G>T
NG_007374.2:g.39739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.454G>T MANE Select	ENSP00000497931.1:p.Val152Leu
ENST00000263817.6:c.454G>T	ENSP00000263817.6:p.Val152Leu
NM_003742.2:c.454G>T	NP_003733.2:p.Val152Leu
XM_006712817.2:c.496G>T	XP_006712880.1:p.Val166Leu
XM_011512077.1:c.556G>T	XP_011510379.1:p.Val186Leu
XM_011512078.1:c.556G>T	XP_011510380.1:p.Val186Leu
XM_011512079.1:c.556G>T	XP_011510381.1:p.Val186Leu
XM_011512080.1:c.556G>T	XP_011510382.1:p.Val186Leu
NM_003742.4:c.454G>T MANE Select	NP_003733.2:p.Val152Leu
XM_006712817.3:c.496G>T	XP_006712880.1:p.Val166Leu
XM_011512077.2:c.556G>T	XP_011510379.1:p.Val186Leu
XM_011512078.2:c.556G>T	XP_011510380.1:p.Val186Leu
XM_011512080.2:c.556G>T	XP_011510382.1:p.Val186Leu
XM_017005165.1:c.556G>T	XP_016860654.1:p.Val186Leu