Canonical Allele Identifier: CA1637724

Gene: ABCG8

Linked Data

• dbSNP Id: rs145125968
• ExAC: 2:44104952 A / T
• gnomAD v2: 2-44104952-A-T
• gnomAD v3: 2-43877813-A-T
• gnomAD v4: 2-43877813-A-T
• MyVariant Identifiers: chr2:g.44104952A>T (hg19) ; chr2:g.43877813A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877813A>T , CM000664.2:g.43877813A>T	GRCh38
NC_000002.11:g.44104952A>T , CM000664.1:g.44104952A>T	GRCh37
NC_000002.10:g.43958456A>T	NCBI36
NG_008884.1:g.43850A>T
NG_008884.2:g.50872A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1922A>T MANE Select	ENSP00000272286.2:p.Tyr641Phe
ENST00000272286.2:c.1922A>T	ENSP00000272286.2:p.Tyr641Phe
NM_022437.2:c.1922A>T	NP_071882.1:p.Tyr641Phe
XM_005264483.2:c.1919A>T	XP_005264540.1:p.Tyr640Phe
XM_011533029.1:c.1934A>T	XP_011531331.1:p.Tyr645Phe
XM_011533030.1:c.1931A>T	XP_011531332.1:p.Tyr644Phe
XM_011533031.1:c.1706A>T	XP_011531333.1:p.Tyr569Phe
XR_939707.1:n.2424A>T
NM_001357321.1:c.1919A>T	NP_001344250.1:p.Tyr640Phe
XM_011533029.2:c.1934A>T	XP_011531331.1:p.Tyr645Phe
XM_011533030.2:c.1931A>T	XP_011531332.1:p.Tyr644Phe
XR_001738891.1:n.2438A>T
XR_939707.2:n.2438A>T
NM_022437.3:c.1922A>T MANE Select	NP_071882.1:p.Tyr641Phe
NM_001357321.2:c.1919A>T	NP_001344250.1:p.Tyr640Phe