Canonical Allele Identifier: CA357421967

Gene: SLC4A4

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71547702T>A , CM000666.2:g.71547702T>A	GRCh38
NC_000004.11:g.72413419T>A , CM000666.1:g.72413419T>A	GRCh37
NC_000004.10:g.72632283T>A	NCBI36
NG_012653.1:g.365417T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698522.1:c.2539-7438T>A	ENSP00000513771.1:n.2539-7438T>A
ENST00000264485.11:c.2676T>A MANE Select	ENSP00000264485.5:p.Phe892Leu
ENST00000340595.4:c.2544T>A MANE Plus Clinical	ENSP00000344272.3:p.Phe848Leu
ENST00000649996.1:c.2676T>A	ENSP00000497468.1:p.Phe892Leu
ENST00000264485.9:c.2676T>A	ENSP00000264485.5:p.Phe892Leu
ENST00000340595.3:c.2544T>A	ENSP00000344272.3:p.Phe848Leu
ENST00000351898.10:c.2443-7438T>A	ENSP00000307349.7:n.2443-7438T>A
ENST00000425175.5:c.2676T>A	ENSP00000393557.1:p.Phe892Leu
NM_001098484.2:c.2676T>A	NP_001091954.1:p.Phe892Leu
NM_001134742.1:c.2676T>A	NP_001128214.1:p.Phe892Leu
NM_003759.3:c.2544T>A	NP_003750.1:p.Phe848Leu
XM_011532390.1:c.2118T>A	XP_011530692.1:p.Phe706Leu
XM_011532390.2:c.2118T>A	XP_011530692.1:p.Phe706Leu
XM_017008792.1:c.2451T>A	XP_016864281.1:p.Phe817Leu
XM_017008793.1:c.2160T>A	XP_016864282.1:p.Phe720Leu
XM_024454267.1:c.2769T>A	XP_024310035.1:p.Phe923Leu
XM_024454268.1:c.2691T>A	XP_024310036.1:p.Phe897Leu
XM_024454269.1:c.2691T>A	XP_024310037.1:p.Phe897Leu
XM_024454270.1:c.2676T>A	XP_024310038.1:p.Phe892Leu
XM_024454271.1:c.2676T>A	XP_024310039.1:p.Phe892Leu
XM_024454272.1:c.2676T>A	XP_024310040.1:p.Phe892Leu
NM_001098484.3:c.2676T>A MANE Select	NP_001091954.1:p.Phe892Leu
NM_001134742.2:c.2676T>A	NP_001128214.1:p.Phe892Leu
NM_003759.4:c.2544T>A MANE Plus Clinical	NP_003750.1:p.Phe848Leu