Canonical Allele Identifier: CA2954778

Gene: SLC4A4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71451240C>T , CM000666.2:g.71451240C>T	GRCh38
NC_000004.11:g.72316957C>T , CM000666.1:g.72316957C>T	GRCh37
NC_000004.10:g.72535821C>T	NCBI36
NG_012653.1:g.268955C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098484.3:c.1261C>T MANE Select	NP_001091954.1:p.His421Tyr
ENST00000264485.11:c.1261C>T MANE Select	ENSP00000264485.5:p.His421Tyr
NM_003759.4:c.1129C>T MANE Plus Clinical	NP_003750.1:p.His377Tyr
ENST00000340595.4:c.1129C>T MANE Plus Clinical	ENSP00000344272.3:p.His377Tyr
NM_001098484.2:c.1261C>T	NP_001091954.1:p.His421Tyr
NM_001134742.1:c.1261C>T	NP_001128214.1:p.His421Tyr
NM_001134742.2:c.1261C>T	NP_001128214.1:p.His421Tyr
NM_003759.3:c.1129C>T	NP_003750.1:p.His377Tyr
ENST00000264485.9:c.1261C>T	ENSP00000264485.5:p.His421Tyr
ENST00000340595.3:c.1129C>T	ENSP00000344272.3:p.His377Tyr
ENST00000351898.10:c.1261C>T	ENSP00000307349.7:p.His421Tyr
ENST00000425175.5:c.1261C>T	ENSP00000393557.1:p.His421Tyr
ENST00000512686.5:c.1129C>T	ENSP00000422400.1:p.His377Tyr
ENST00000514331.1:n.1190C>T
ENST00000649996.1:c.1261C>T	ENSP00000497468.1:p.His421Tyr
ENST00000698522.1:c.1357C>T	ENSP00000513771.1:p.His453Tyr
XM_011532390.1:c.703C>T	XP_011530692.1:p.His235Tyr
XM_011532390.2:c.703C>T	XP_011530692.1:p.His235Tyr
XM_017008792.1:c.1036C>T	XP_016864281.1:p.His346Tyr
XM_017008793.1:c.745C>T	XP_016864282.1:p.His249Tyr
XM_024454267.1:c.1354C>T	XP_024310035.1:p.His452Tyr
XM_024454268.1:c.1276C>T	XP_024310036.1:p.His426Tyr
XM_024454269.1:c.1276C>T	XP_024310037.1:p.His426Tyr
XM_024454270.1:c.1261C>T	XP_024310038.1:p.His421Tyr
XM_024454271.1:c.1261C>T	XP_024310039.1:p.His421Tyr
XM_024454272.1:c.1261C>T	XP_024310040.1:p.His421Tyr