Canonical Allele Identifier: CA346671349

Gene: ABCG8

Linked Data

• dbSNP Id: rs1286838316
• MyVariant Identifiers: chr2:g.44104969G>T (hg19) ; chr2:g.43877830G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877830G>T , CM000664.2:g.43877830G>T	GRCh38
NC_000002.11:g.44104969G>T , CM000664.1:g.44104969G>T	GRCh37
NC_000002.10:g.43958473G>T	NCBI36
NG_008884.1:g.43867G>T
NG_008884.2:g.50889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1939G>T MANE Select	ENSP00000272286.2:p.Val647Phe
ENST00000272286.2:c.1939G>T	ENSP00000272286.2:p.Val647Phe
NM_022437.2:c.1939G>T	NP_071882.1:p.Val647Phe
XM_005264483.2:c.1936G>T	XP_005264540.1:p.Val646Phe
XM_011533029.1:c.1951G>T	XP_011531331.1:p.Val651Phe
XM_011533030.1:c.1948G>T	XP_011531332.1:p.Val650Phe
XM_011533031.1:c.1723G>T	XP_011531333.1:p.Val575Phe
XR_939707.1:n.2441G>T
NM_001357321.1:c.1936G>T	NP_001344250.1:p.Val646Phe
XM_011533029.2:c.1951G>T	XP_011531331.1:p.Val651Phe
XM_011533030.2:c.1948G>T	XP_011531332.1:p.Val650Phe
XR_001738891.1:n.2455G>T
XR_939707.2:n.2455G>T
NM_022437.3:c.1939G>T MANE Select	NP_071882.1:p.Val647Phe
NM_001357321.2:c.1936G>T	NP_001344250.1:p.Val646Phe