Canonical Allele Identifier: CA11690668
Community Standard Title: NM_001098484.3(SLC4A4):c.3100-77G>A
Gene: SLC4A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71563716G>A , CM000666.2:g.71563716G>A GRCh38
NC_000004.11:g.72429433G>A , CM000666.1:g.72429433G>A GRCh37
NC_000004.10:g.72648297G>A NCBI36
NG_012653.1:g.381431G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001098484.3:c.3100-77G>A MANE Select NP_001091954.1:n.3100-77G>A
ENST00000264485.11:c.3100-77G>A MANE Select ENSP00000264485.5:n.3100-77G>A
NM_003759.4:c.2968-77G>A MANE Plus Clinical NP_003750.1:n.2968-77G>A
ENST00000340595.4:c.2968-77G>A MANE Plus Clinical ENSP00000344272.3:n.2968-77G>A
NM_001098484.2:c.3100-77G>A NP_001091954.1:n.3100-77G>A
NM_001134742.1:c.3100-3288G>A NP_001128214.1:n.3100-3288G>A
NM_001134742.2:c.3100-3288G>A NP_001128214.1:n.3100-3288G>A
NM_003759.3:c.2968-77G>A NP_003750.1:n.2968-77G>A
ENST00000264485.9:c.3100-77G>A ENSP00000264485.5:n.3100-77G>A
ENST00000340595.3:c.2968-77G>A ENSP00000344272.3:n.2968-77G>A
ENST00000351898.10:c.2848-77G>A ENSP00000307349.7:n.2848-77G>A
ENST00000425175.5:c.3100-3288G>A ENSP00000393557.1:n.3100-3288G>A
ENST00000649996.1:c.3100-77G>A ENSP00000497468.1:n.3100-77G>A
ENST00000698522.1:c.2944-77G>A ENSP00000513771.1:n.2944-77G>A
XM_011532390.1:c.2542-77G>A XP_011530692.1:n.2542-77G>A
XM_011532390.2:c.2542-77G>A XP_011530692.1:n.2542-77G>A
XM_017008792.1:c.2875-77G>A XP_016864281.1:n.2875-77G>A
XM_017008793.1:c.2584-77G>A XP_016864282.1:n.2584-77G>A
XM_024454267.1:c.3193-77G>A XP_024310035.1:n.3193-77G>A
XM_024454268.1:c.3115-77G>A XP_024310036.1:n.3115-77G>A
XM_024454269.1:c.3115-77G>A XP_024310037.1:n.3115-77G>A
XM_024454270.1:c.3100-77G>A XP_024310038.1:n.3100-77G>A
XM_024454271.1:c.3100-77G>A XP_024310039.1:n.3100-77G>A
XM_024454272.1:c.3100-77G>A XP_024310040.1:n.3100-77G>A