Canonical Allele Identifier: CA346670989

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670006163
• gnomAD v3: 2-43877675-T-G
• gnomAD v4: 2-43877675-T-G
• MyVariant Identifiers: chr2:g.44104814T>G (hg19) ; chr2:g.43877675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877675T>G , CM000664.2:g.43877675T>G	GRCh38
NC_000002.11:g.44104814T>G , CM000664.1:g.44104814T>G	GRCh37
NC_000002.10:g.43958318T>G	NCBI36
NG_008884.1:g.43712T>G
NG_008884.2:g.50734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1871T>G MANE Select	ENSP00000272286.2:p.Val624Gly
ENST00000272286.2:c.1871T>G	ENSP00000272286.2:p.Val624Gly
NM_022437.2:c.1871T>G	NP_071882.1:p.Val624Gly
XM_005264483.2:c.1868T>G	XP_005264540.1:p.Val623Gly
XM_011533029.1:c.1883T>G	XP_011531331.1:p.Val628Gly
XM_011533030.1:c.1880T>G	XP_011531332.1:p.Val627Gly
XM_011533031.1:c.1655T>G	XP_011531333.1:p.Val552Gly
XR_939707.1:n.2373T>G
NM_001357321.1:c.1868T>G	NP_001344250.1:p.Val623Gly
XM_011533029.2:c.1883T>G	XP_011531331.1:p.Val628Gly
XM_011533030.2:c.1880T>G	XP_011531332.1:p.Val627Gly
XR_001738891.1:n.2387T>G
XR_939707.2:n.2387T>G
NM_022437.3:c.1871T>G MANE Select	NP_071882.1:p.Val624Gly
NM_001357321.2:c.1868T>G	NP_001344250.1:p.Val623Gly