Canonical Allele Identifier: CA2954775

Gene: SLC4A4

Linked Data

• ClinVar Variation Id: 349543
• ClinVar RCV Id: RCV000291593
• dbSNP Id: rs201149572
• ExAC: 4:72316953 G / A
• gnomAD v2: 4-72316953-G-A
• gnomAD v3: 4-71451236-G-A
• gnomAD v4: 4-71451236-G-A
• MyVariant Identifiers: chr4:g.72316953G>A (hg19) ; chr4:g.71451236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71451236G>A , CM000666.2:g.71451236G>A	GRCh38
NC_000004.11:g.72316953G>A , CM000666.1:g.72316953G>A	GRCh37
NC_000004.10:g.72535817G>A	NCBI36
NG_012653.1:g.268951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698522.1:c.1353G>A	ENSP00000513771.1:p.Thr451=
ENST00000264485.11:c.1257G>A MANE Select	ENSP00000264485.5:p.Thr419=
ENST00000340595.4:c.1125G>A MANE Plus Clinical	ENSP00000344272.3:p.Thr375=
ENST00000649996.1:c.1257G>A	ENSP00000497468.1:p.Thr419=
ENST00000264485.9:c.1257G>A	ENSP00000264485.5:p.Thr419=
ENST00000340595.3:c.1125G>A	ENSP00000344272.3:p.Thr375=
ENST00000351898.10:c.1257G>A	ENSP00000307349.7:p.Thr419=
ENST00000425175.5:c.1257G>A	ENSP00000393557.1:p.Thr419=
ENST00000512686.5:c.1125G>A	ENSP00000422400.1:p.Thr375=
ENST00000514331.1:n.1186G>A
NM_001098484.2:c.1257G>A	NP_001091954.1:p.Thr419=
NM_001134742.1:c.1257G>A	NP_001128214.1:p.Thr419=
NM_003759.3:c.1125G>A	NP_003750.1:p.Thr375=
XM_011532390.1:c.699G>A	XP_011530692.1:p.Thr233=
XM_011532390.2:c.699G>A	XP_011530692.1:p.Thr233=
XM_017008792.1:c.1032G>A	XP_016864281.1:p.Thr344=
XM_017008793.1:c.741G>A	XP_016864282.1:p.Thr247=
XM_024454267.1:c.1350G>A	XP_024310035.1:p.Thr450=
XM_024454268.1:c.1272G>A	XP_024310036.1:p.Thr424=
XM_024454269.1:c.1272G>A	XP_024310037.1:p.Thr424=
XM_024454270.1:c.1257G>A	XP_024310038.1:p.Thr419=
XM_024454271.1:c.1257G>A	XP_024310039.1:p.Thr419=
XM_024454272.1:c.1257G>A	XP_024310040.1:p.Thr419=
NM_001098484.3:c.1257G>A MANE Select	NP_001091954.1:p.Thr419=
NM_001134742.2:c.1257G>A	NP_001128214.1:p.Thr419=
NM_003759.4:c.1125G>A MANE Plus Clinical	NP_003750.1:p.Thr375=