Canonical Allele Identifier: CA346671012

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104826A>T (hg19) ; chr2:g.43877687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877687A>T , CM000664.2:g.43877687A>T	GRCh38
NC_000002.11:g.44104826A>T , CM000664.1:g.44104826A>T	GRCh37
NC_000002.10:g.43958330A>T	NCBI36
NG_008884.1:g.43724A>T
NG_008884.2:g.50746A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1883A>T MANE Select	ENSP00000272286.2:p.Lys628Ile
ENST00000272286.2:c.1883A>T	ENSP00000272286.2:p.Lys628Ile
NM_022437.2:c.1883A>T	NP_071882.1:p.Lys628Ile
XM_005264483.2:c.1880A>T	XP_005264540.1:p.Lys627Ile
XM_011533029.1:c.1895A>T	XP_011531331.1:p.Lys632Ile
XM_011533030.1:c.1892A>T	XP_011531332.1:p.Lys631Ile
XM_011533031.1:c.1667A>T	XP_011531333.1:p.Lys556Ile
XR_939707.1:n.2385A>T
NM_001357321.1:c.1880A>T	NP_001344250.1:p.Lys627Ile
XM_011533029.2:c.1895A>T	XP_011531331.1:p.Lys632Ile
XM_011533030.2:c.1892A>T	XP_011531332.1:p.Lys631Ile
XR_001738891.1:n.2399A>T
XR_939707.2:n.2399A>T
NM_022437.3:c.1883A>T MANE Select	NP_071882.1:p.Lys628Ile
NM_001357321.2:c.1880A>T	NP_001344250.1:p.Lys627Ile